ABCA4 (P78363) variants and mutations
ABCA4 (also known as P78363) is a human protein-coding gene encoding a retinal-specific phospholipid-transporting ATPase protein. It flips retinal-derived lipid adducts across photoreceptor disc membranes so they can be cleared during the visual cycle. Biallelic loss-of-function variants cause Stargardt disease and can also produce cone-rod dystrophy or retinitis pigmentosa. This analysis covers 3,721 ABCA4 variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes severe early-childhood-onset retinal dystrophy, Stargardt disease, and cone-rod dystrophy 3. Example ABCA4 variants include M1I, M1L, and M1T.
Variant analysis overview
- Gene: ABCA4
- Protein: P78363
- UniProt accession: P78363
- Organism: Homo sapiens
- Variants analyzed: 3721
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 3,511 unspecified-consequence records; 1 stop retained variant; 94 missense variants; 91 synonymous variants; 4 stop-gained variants; 11 frameshift variants; 3 splice-region variants; 4 in-frame deletions; 2 in-frame insertions
- Prediction scores: 3,398 variants have prediction scores (91% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: severe early-childhood-onset retinal dystrophy, Stargardt disease, cone-rod dystrophy 3, retinitis pigmentosa 19, age-related macular degeneration, retinitis pigmentosa, Cone rod dystrophy, cone-rod dystrophy, ABCA4-related retinopathy, age related macular degeneration 2, Retinal dystrophy, macular degeneration.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 2 domains; 21 binding sites; 12 post-translational modification sites.
- Structural context: 1,227 variants have structural context.
- PTM context: 14 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable ABCA4 variants
Examples include M1I, M1L, M1T, M1V, G2D, G2R, F3S, V4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs886041554, ClinGen CA10602781, ClinVar RCV000316791, ClinVar RCV006272287, MetaLR 0.30, MetaSVM -0.42, Pathogenic, ABCA4-related retinopathy
- M1L (p.Met1Leu), rs201738997, ClinGen CA341289049, ClinVar RCV003549213, MetaLR 0.23, MetaSVM -0.59, Pathogenic, not provided
- M1T (p.Met1Thr), rs1662938116, ClinGen CA341289047, ClinVar RCV002648183, ClinVar RCV003324587, MetaLR 0.28, MetaSVM -0.44, Pathogenic/Likely pathogenic, Stargardt disease; not provided
- M1V (p.Met1Val), rs201738997, ClinGen CA226968, ClinVar RCV000085454, ClinVar RCV000408483, MetaLR 0.23, MetaSVM -0.59, Pathogenic, ABCA4-related retinopathy
- G2D (p.Gly2Asp), rs764311517, NCI-TCGA Cosmic COSV6467, ExAC rs764311517, gnomAD rs764311517, AlphaMissense 0.12, MetaLR 0.81, Variant assessed as somatic; moderate impact.
- G2R (p.Gly2Arg), ExAC rs751669641, gnomAD rs751669641
- F3S (p.Phe3Ser), gnomAD rs1439937348, REVEL 0.54, MetaLR 0.65
- V4A (p.Val4Ala), Ensembl rs2101191549, MetaLR 0.14, MetaSVM -0.80
- V4M (p.Val4Met), rs369852553, ClinGen CA26845241, ClinVar RCV002907770, ESP rs369852553, REVEL 0.13, MetaLR 0.25, Uncertain significance, not provided
- Q6E (p.Gln6Glu), TOPMed rs1028516438, REVEL 0.72, MetaLR 0.88
- Q6P (p.Gln6Pro), gnomAD rs1662937406, REVEL 0.85, MetaLR 0.87
- I7K (p.Ile7Lys), Ensembl rs1662937220, MetaLR 0.03, MetaSVM -1.07
- I7L (p.Ile7Leu), ExAC rs754924450, TOPMed rs754924450, REVEL 0.12, MetaLR 0.01
- I7M (p.Ile7Met), TOPMed rs1308464856, gnomAD rs1308464856, REVEL 0.15, MetaLR 0.10
- Q8K (p.Gln8Lys), ESP rs376675803, ExAC rs376675803, gnomAD rs376675803
- Q8R (p.Gln8Arg), TOPMed rs1662936943
- L9F (p.Leu9Phe), rs2524048090, ClinGen CA341288849, ClinVar RCV003050277, Likely pathogenic, not provided
- L11P (p.Leu11Pro), rs62645946, ClinGen CA227106, ClinVar RCV000085568, ClinVar RCV000779010, REVEL 0.95, MetaLR 0.91, Pathogenic, ABCA4-related retinopathy
- W12* (p.Trp12Ter), rs761209432, NCI-TCGA Cosmic COSV1009, ClinGen CA26845230, ClinVar RCV000986377, AlphaMissense 0.85, MetaLR 0.87, Pathogenic
- W12C (p.Trp12Cys), rs761209432, ClinGen CA341288721, ClinVar RCV002039758, TOPMed rs761209432, REVEL 0.83, AlphaMissense 0.85, Uncertain significance, not provided
- W12R (p.Trp12Arg), Ensembl rs1662936638, MetaLR 0.80, MetaSVM 0.81
- K13R (p.Lys13Arg), ESP rs371304323, ExAC rs371304323, gnomAD rs371304323
- K13E (p.Lys13Glu), rs1131691262, ClinGen CA341288694, ClinVar RCV000494201, Ensembl rs1131691262, AlphaMissense 0.80, MetaLR 0.51, Likely pathogenic, not provided
- N14K (p.Asn14Lys), UniProt VAR 084833, REVEL 0.76, MetaLR 0.89, Pathogenic, Stargardt disease
- W15* (p.Trp15Ter), rs2101191402, ClinGen CA341288638, ClinVar RCV001970126, Ensembl rs2101191402, CADD 38.00, Pathogenic
- W15C (p.Trp15Cys), TOPMed rs62645957, gnomAD rs62645957, REVEL 0.85, MetaLR 0.95, Pathogenic
- T16A (p.Thr16Ala), ExAC rs767182574, gnomAD rs767182574, REVEL 0.70, MetaLR 0.84
- T16I (p.Thr16Ile), rs949028237, ClinGen CA26845223, ClinVar RCV001347841, TOPMed rs949028237, REVEL 0.66, MetaLR 0.76, Uncertain significance, not provided
- L17P (p.Leu17Pro), rs1322362097, ClinGen CA341288613, ClinVar RCV001983210, gnomAD rs1322362097, REVEL 0.80, MetaLR 0.77, Uncertain significance, not provided
- R18P (p.Arg18Pro), rs868543294, ClinGen CA341288585, ClinVar RCV001074656, ClinVar RCV003558654, AlphaMissense 0.92, MetaLR 0.83, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided
- R18Q (p.Arg18Gln), rs868543294, ClinGen CA26845219, NCI-TCGA Cosmic COSV1009, ClinVar RCV002042187, REVEL 0.69, AlphaMissense 0.92, Pathogenic, not provided; Stargardt disease
- R18W (p.Arg18Trp), rs121909205, ClinGen CA227296, ClinVar RCV000008356, ClinVar RCV000085719, REVEL 0.77, MetaLR 0.77, Likely pathogenic, Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- K19N (p.Lys19Asn), rs1662934961, ClinGen CA341288544, ClinVar RCV001889884, Ensembl rs1662934961, AlphaMissense 0.62, MetaLR 0.80, Likely pathogenic, not provided
- R20G (p.Arg20Gly), rs1662934886, ClinGen CA341288542, ClinVar RCV001903005, TOPMed rs1662934886, AlphaMissense 0.67, MetaLR 0.90, Uncertain significance, not provided
- Q21* (p.Gln21Ter), rs770272033, ClinGen CA958970, ClinVar RCV001233348, ClinVar RCV001353021, Pathogenic
- Q21P (p.Gln21Pro), ExAC rs746232022, gnomAD rs746232022, REVEL 0.79, MetaLR 0.81
- K22N (p.Lys22Asn), rs2101191227, ClinGen CA341288484, ClinVar RCV001953911, Ensembl rs2101191227, REVEL 0.20, MetaLR 0.21, Pathogenic, not provided
- I23N (p.Ile23Asn), 1000Genomes rs201387193, REVEL 0.48, MetaLR 0.71
- I23V (p.Ile23Val), ExAC rs756045993, gnomAD rs756045993, REVEL 0.17, MetaLR 0.22
- R24C (p.Arg24Cys), rs62645942, ClinGen CA227447, ClinVar RCV000085858, ClinVar RCV005031591, REVEL 0.87, AlphaMissense 0.16, Pathogenic/Likely pathogenic, Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- R24G (p.Arg24Gly), rs62645942, ClinGen CA341286901, ClinVar RCV001062719, 1000Genomes rs62645942, AlphaMissense 0.16, MetaLR 0.83, Likely pathogenic, not provided
- R24H (p.Arg24His), rs62645958, ClinGen CA227449, ClinVar RCV000085859, ClinVar RCV000779009, REVEL 0.81, MetaLR 0.79, Pathogenic/Likely pathogenic, Retinal disorder; ABCA4-related disorder; Severe early-childhood-onset retinal d
- F25S (p.Phe25Ser), ExAC rs757050873, REVEL 0.59, MetaLR 0.62
- V27M (p.Val27Met), ExAC rs763727710
- L29F (p.Leu29Phe), ESP rs146663678, ExAC rs146663678, gnomAD rs146663678, REVEL 0.54, MetaLR 0.69
- L29H (p.Leu29His), Ensembl rs886044719, REVEL 0.75, AlphaMissense 0.57, Likely pathogenic
- L29R (p.Leu29Arg), rs886044719, ClinGen CA10602458, ClinVar RCV000408508, ClinVar RCV004816379, AlphaMissense 0.57, MetaLR 0.80, Likely pathogenic, Retinal dystrophy; Severe early-childhood-onset retinal dystrophy
- V30M (p.Val30Met), rs202127496, ClinGen CA958936, ClinVar RCV000585071, 1000Genomes rs202127496, REVEL 0.01, MetaLR 0.04, Uncertain significance, not provided
- W31* (p.Trp31Ter), rs1191816747, ClinGen CA341286738, ClinVar RCV001067891, ClinVar RCV001074538, CADD 37.00, Pathogenic
- W31R (p.Trp31Arg), rs1193865484, ClinGen CA341286761, ClinVar RCV002664174, TOPMed rs1193865484, REVEL 0.86, MetaLR 0.86, Pathogenic, not provided
- P32L (p.Pro32Leu), rs1428504985, ClinGen CA341286731, ClinVar RCV001378487, ClinVar RCV005432697, REVEL 0.84, MetaLR 0.93, Pathogenic, not provided; Stargardt disease
- P32T (p.Pro32Thr), ExAC rs760036995, gnomAD rs760036995, REVEL 0.91, MetaLR 0.89
- L33* (p.Leu33Ter), TOPMed rs1447289166
- L33F (p.Leu33Phe), ExAC rs777015231, TOPMed rs777015231, gnomAD rs777015231, Likely benign
- S34C (p.Ser34Cys), NCI-TCGA Cosmic COSV6467, Variant assessed as somatic; moderate impact.
- L35S (p.Leu35Ser), Ensembl rs1662655155
- F36Y (p.Phe36Tyr), TOPMed rs1662654854, REVEL 0.78, MetaLR 0.85
- L37P (p.Leu37Pro), rs2101166972, ClinGen CA341286639, ClinVar RCV001981162, Ensembl rs2101166972, REVEL 0.69, MetaLR 0.83, Uncertain significance, not provided
- V38L (p.Val38Leu), ExAC rs771350693, gnomAD rs771350693, REVEL 0.29, MetaLR 0.73
- I40F (p.Ile40Phe), rs761112891, ClinGen CA341286606, ClinVar RCV001051277, ExAC rs761112891, REVEL 0.54, MetaLR 0.70, Uncertain significance, not provided
- I40M (p.Ile40Met), TOPMed rs1404664758, REVEL 0.37, MetaLR 0.52
- I40N (p.Ile40Asn), ExAC rs772400085, gnomAD rs772400085, REVEL 0.62, MetaLR 0.78
- I40T (p.Ile40Thr), ExAC rs772400085, gnomAD rs772400085, REVEL 0.44, MetaLR 0.50
- I40V (p.Ile40Val), rs761112891, NCI-TCGA Cosmic COSV6467, ExAC rs761112891, REVEL 0.19, MetaLR 0.18, Uncertain significance
- W41* (p.Trp41Ter), rs748357067, ClinGen CA958928, ClinVar RCV000596465, ClinVar RCV001000881, CADD 38.00, Pathogenic
- W41G (p.Trp41Gly), Ensembl rs1662654220, REVEL 0.81, MetaLR 0.91, Uncertain significance, not provided
- A45G (p.Ala45Gly), ESP rs368503198, ExAC rs368503198, TOPMed rs368503198, gnomAD rs368503198, REVEL 0.04, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases
- A45V (p.Ala45Val), rs368503198, ClinGen CA341286519, ClinVar RCV001341271, ESP rs368503198, AlphaMissense 0.06, MetaLR 0.03, Uncertain significance, not provided
- P47L (p.Pro47Leu), rs143207212, ClinGen CA958924, ClinVar RCV001102139, 1000Genomes rs143207212, REVEL 0.75, MetaLR 0.77, Uncertain significance, ABCA4-related disorder
- P47Q (p.Pro47Gln), 1000Genomes rs143207212, ESP rs143207212, ExAC rs143207212, TOPMed rs143207212, MetaLR 0.87, MetaSVM 0.90, Uncertain significance
- P47S (p.Pro47Ser), NCI-TCGA Cosmic COSV6467, REVEL 0.84, MetaLR 0.86, Variant assessed as somatic; moderate impact.
- L48F (p.Leu48Phe), TOPMed rs1662652948
- L48P (p.Leu48Pro), TOPMed rs1570434341, REVEL 0.45, MetaLR 0.53
- S50R (p.Ser50Arg), gnomAD rs1252712183, REVEL 0.02, MetaLR 0.02
- H52D (p.His52Asp), rs941059389, ClinGen CA26842836, ClinVar RCV001036847, ClinVar RCV004629401, REVEL 0.28, MetaLR 0.18, Uncertain significance, not provided; Inborn genetic diseases
- H52Q (p.His52Gln), rs557725292, ClinGen CA958920, ClinVar RCV001044124, ClinVar RCV001075007, REVEL 0.72, MetaLR 0.20, Uncertain significance, ABCA4-related retinopathy
- H52R (p.His52Arg), rs2524014341, ClinGen CA341286348, ClinVar RCV002976373, REVEL 0.45, MetaLR 0.29, Uncertain significance, not provided
- E53Q (p.Glu53Gln), ExAC rs764744217, gnomAD rs764744217, MetaLR 0.95, MetaSVM 1.08, Pathogenic
- E53V (p.Glu53Val), rs1662652110, ClinGen CA341286322, ClinVar RCV001325383, Ensembl rs1662652110, REVEL 0.89, MetaLR 0.96, Uncertain significance, not provided
- C54F (p.Cys54Phe), rs150774447, ClinGen CA226909, ClinVar RCV000085409, ClinVar RCV000132585, REVEL 0.98, MetaLR 0.98, Pathogenic, Severe early-childhood-onset retinal dystrophy
- C54G (p.Cys54Gly), rs886044720, ClinGen CA10602457, ClinVar RCV000408466, ClinVar RCV002485454, AlphaMissense 0.88, MetaLR 0.98, Likely pathogenic, Retinitis pigmentosa 19; Severe early-childhood-onset retinal dystrophy; Cone-ro
- C54Y (p.Cys54Tyr), rs150774447, ClinGen CA226908, ClinVar RCV000085408, ClinVar RCV000210980, REVEL 0.98, MetaLR 0.98, Pathogenic/Likely pathogenic, Retinal disorder; Retinal dystrophy; Severe early-childhood-onset retinal dystro
- H55R (p.His55Arg), rs2524008173, ClinGen CA341285638, ClinVar RCV002634305, UniProt VAR 084837, Pathogenic, not provided
- H55Y (p.His55Tyr), Ensembl rs749959652, Uncertain significance, in CORD3
- F56I (p.Phe56Ile), rs1662606557, ClinGen CA341285634, ClinVar RCV001073241, Ensembl rs1662606557, AlphaMissense 0.94, MetaLR 0.96, Uncertain significance, Retinal dystrophy
- F56S (p.Phe56Ser), ExAC rs747766711, gnomAD rs747766711, REVEL 0.89, MetaLR 0.95
- P57A (p.Pro57Ala), ExAC rs778422185, gnomAD rs778422185, REVEL 0.74, MetaLR 0.97
- P57L (p.Pro57Leu), ExAC rs754713440, gnomAD rs754713440, REVEL 0.87, MetaLR 0.97
- N58D (p.Asn58Asp), gnomAD rs1662606229, REVEL 0.68, MetaLR 0.97
- N58I (p.Asn58Ile), rs2524008119, ClinGen CA341285618, ClinVar RCV002470565, Uncertain significance, Severe early-childhood-onset retinal dystrophy
- N58K (p.Asn58Lys), rs61748524, ClinGen CA226920, ClinVar RCV000085418, UniProt VAR 012495, AlphaMissense 0.95, MetaLR 0.97, Uncertain significance, not provided
- K59R (p.Lys59Arg), Ensembl rs1662606120, MetaLR 0.95, MetaSVM 1.10, Likely pathogenic, not provided
- A60E (p.Ala60Glu), rs55732384, ClinGen CA341285606, ClinVar RCV003691242, UniProt VAR 012496, AlphaMissense 0.74, MetaLR 0.98, Likely pathogenic, not provided
- A60G (p.Ala60Gly), ExAC rs55732384, TOPMed rs55732384, gnomAD rs55732384, REVEL 0.82, AlphaMissense 0.74, Pathogenic, in STGD1
- A60T (p.Ala60Thr), rs61751411, ClinGen CA226928, ClinVar RCV000085425, UniProt VAR 012497, AlphaMissense 0.66, MetaLR 0.98, Likely pathogenic, not provided
- A60V (p.Ala60Val), rs55732384, ClinGen CA226931, ClinVar RCV000085427, ClinVar RCV000408452, REVEL 0.93, AlphaMissense 0.74, Pathogenic/Likely pathogenic, Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy 3; Retinitis
- M61I (p.Met61Ile), rs750987349, ClinGen CA341285598, ClinVar RCV003541886, ClinGen CA958898, REVEL 0.76, MetaLR 0.89, Pathogenic, Stargardt disease; not provided
- M61L (p.Met61Leu), TOPMed rs1394943055, gnomAD rs1394943055, REVEL 0.54, MetaLR 0.56
- M61T (p.Met61Thr), rs2524008053, ClinGen CA341285600, ClinVar RCV002622047, REVEL 0.86, MetaLR 0.86, Pathogenic, not provided
- P62A (p.Pro62Ala), rs1355238974, ClinGen CA341285596, ClinVar RCV003832349, REVEL 0.90, AlphaMissense 0.89, Pathogenic, not provided
- P62L (p.Pro62Leu), rs1057520211, ClinGen CA16603771, ClinVar RCV000417747, ClinVar RCV001075540, REVEL 0.94, MetaLR 0.95, Conflicting interpretations, Retinal dystrophy; not provided
- P62S (p.Pro62Ser), rs1355238974, ClinGen CA341285594, ClinVar RCV001352982, ClinVar RCV003490217, REVEL 0.91, AlphaMissense 0.89, Likely pathogenic, Retinitis pigmentosa; Severe early-childhood-onset retinal dystrophy; not provid
- P62T (p.Pro62Thr), rs1355238974, ClinGen CA341285595, ClinVar RCV001362121, TOPMed rs1355238974, AlphaMissense 0.89, MetaLR 0.93, Likely pathogenic, not provided
- S63L (p.Ser63Leu), rs2101162668, ClinGen CA341285586, ClinVar RCV002034372, Ensembl rs2101162668, REVEL 0.92, MetaLR 0.98, Uncertain significance, not provided
- S63P (p.Ser63Pro), UniProt VAR 084838, Uncertain significance, in CORD3
- A64P (p.Ala64Pro), Ensembl rs1662604958
- A64V (p.Ala64Val), rs1388219872, ClinGen CA341285580, ClinVar RCV003562276, ClinVar RCV006262356, REVEL 0.88, MetaLR 0.98, Likely pathogenic, Stargardt disease; not provided
- G65E (p.Gly65Glu), rs62654395, ClinGen CA226964, ClinVar RCV000085451, ClinVar RCV000132588, REVEL 0.98, MetaLR 1.00, Pathogenic/Likely pathogenic, Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- G65R (p.Gly65Arg), rs1662604844, ClinGen CA341285577, ClinVar RCV001207246, Ensembl rs1662604844, AlphaMissense 0.72, MetaLR 1.00, Uncertain significance, not provided
- G65V (p.Gly65Val), 1000Genomes rs62654395, ExAC rs62654395, TOPMed rs62654395, gnomAD rs62654395, REVEL 0.95, MetaLR 1.00, Pathogenic, in STGD1 and CORD3
- M66I (p.Met66Ile), Ensembl rs1662604640, MetaLR 0.52, MetaSVM -0.05
- M66K (p.Met66Lys), ExAC rs762081422, gnomAD rs762081422, REVEL 0.44, MetaLR 0.81
- P68L (p.Pro68Leu), rs62654397, ClinGen CA226972, ClinVar RCV000085457, ClinVar RCV000414796, REVEL 0.95, MetaLR 1.00, Pathogenic, ABCA4-related retinopathy
- P68R (p.Pro68Arg), rs62654397, ClinGen CA226971, ClinVar RCV000085456, ClinVar RCV000779008, REVEL 0.92, MetaLR 1.00, Pathogenic/Likely pathogenic, ABCA4-related disorder; Retinal dystrophy; not provided
- W69* (p.Trp69Ter), rs886044722, ClinGen CA10602454, ClinVar RCV000408521, ClinVar RCV004816383, CADD 40.00, Pathogenic
- W69R (p.Trp69Arg), Ensembl rs2101162576, MetaLR 0.99, MetaSVM 0.92
- L70P (p.Leu70Pro), rs2101162564, ClinGen CA341285546, ClinVar RCV002045452, Ensembl rs2101162564, AlphaMissense 0.90, MetaLR 0.98, Likely pathogenic, not provided
- Q71P (p.Gln71Pro), Ensembl rs1662604222
- Q71R (p.Gln71Arg), Ensembl rs1662604222
- G72E (p.Gly72Glu), rs2101162548, ClinGen CA341285534, NCI-TCGA Cosmic COSV6467, ClinVar RCV003543989, AlphaMissense 0.85, MetaLR 1.00, Pathogenic, not provided
- G72R (p.Gly72Arg), rs61751412, ClinGen CA226983, ClinVar RCV000085464, ClinVar RCV000787776, REVEL 0.96, MetaLR 1.00, Pathogenic/Likely pathogenic, ABCA4-related disorder; Retinal dystrophy; not specified
- G72V (p.Gly72Val), rs2101162548, ClinGen CA341285532, ClinVar RCV001880561, UniProt VAR 084839, AlphaMissense 0.85, MetaLR 1.00, Pathogenic, not provided
- I73T (p.Ile73Thr), TOPMed rs997726534, REVEL 0.89, MetaLR 0.96
- C75G (p.Cys75Gly), rs61748526, ClinGen CA226985, ClinVar RCV000085466, ClinVar RCV000504688, REVEL 0.91, MetaLR 0.99, Pathogenic, not provided; Retinitis pigmentosa
- C75R (p.Cys75Arg), rs61748526, ClinGen CA341285516, ClinVar RCV001363327, TOPMed rs61748526, REVEL 0.97, MetaLR 0.99, Likely pathogenic, not provided
- C75Y (p.Cys75Tyr), rs1264338576, ClinGen CA341285515, ClinVar RCV003674473, TOPMed rs1264338576, REVEL 0.96, MetaLR 1.00, Likely pathogenic, not provided
- N76T (p.Asn76Thr), TOPMed rs1662603594, MetaLR 0.97, MetaSVM 1.09
- V77A (p.Val77Ala), gnomAD rs61748527, REVEL 0.33, MetaLR 0.48
- V77E (p.Val77Glu), rs61748527, ClinGen CA226991, ClinVar RCV000085472, UniProt VAR 012501, REVEL 0.70, MetaLR 0.85, not provided
- V77M (p.Val77Met), rs1662603511, ClinGen CA341285502, ClinVar RCV001666802, Ensembl rs1662603511, REVEL 0.19, MetaLR 0.58, Benign, not provided
- N78H (p.Asn78His), rs148529158, ClinGen CA958892, ClinVar RCV002750530, ESP rs148529158, REVEL 0.63, MetaLR 0.95, Uncertain significance, not provided
- N78S (p.Asn78Ser), rs2524007819, ClinGen CA341285494, ClinVar RCV003052473, Uncertain significance, not provided
- N79K (p.Asn79Lys), rs149381884, ClinGen CA341285484, ClinVar RCV003044335, Pathogenic, not provided
- P80L (p.Pro80Leu), rs1256178077, ClinGen CA341285477, ClinVar RCV001244854, TOPMed rs1256178077, REVEL 0.86, MetaLR 0.98, Uncertain significance, not provided
- P80T (p.Pro80Thr), NCI-TCGA Cosmic COSV1009, Variant assessed as somatic; moderate impact.
- C81* (p.Cys81Ter), ExAC rs747878343, gnomAD rs747878343, CADD 36.00
- C81S (p.Cys81Ser), rs1570433137, ClinGen CA341285471, ClinVar RCV001002848, Ensembl rs1570433137, AlphaMissense 0.98, MetaLR 0.99, Likely pathogenic, Stargardt disease
- F82L (p.Phe82Leu), Ensembl rs1473980302, MetaLR 0.96, MetaSVM 1.11
- Q83K (p.Gln83Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S84I (p.Ser84Ile), ExAC rs778817150, gnomAD rs778817150, REVEL 0.34, MetaLR 0.85
- P85L (p.Pro85Leu), NCI-TCGA Cosmic COSV6467, MetaLR 0.99, MetaSVM 0.97, Variant assessed as somatic; moderate impact.
- P85S (p.Pro85Ser), TOPMed rs1662602042, REVEL 0.78, MetaLR 0.99
- T86I (p.Thr86Ile), rs1463176839, ClinGen CA341285435, ClinVar RCV002576380, TOPMed rs1463176839, REVEL 0.89, MetaLR 0.99, Uncertain significance, not provided
- T86N (p.Thr86Asn), TOPMed rs1463176839, gnomAD rs1463176839, MetaLR 0.99, MetaSVM 1.01, Uncertain significance, Severe early-childhood-onset retinal dystrophy
- P87A (p.Pro87Ala), TOPMed rs1452638406, gnomAD rs1452638406, REVEL 0.41, MetaLR 0.88
- P87L (p.Pro87Leu), gnomAD rs1662601617, MetaLR 0.88, MetaSVM 0.71
- G88R (p.Gly88Arg), ExAC rs754554866, gnomAD rs754554866, REVEL 0.85, MetaLR 1.00, Uncertain significance, not specified
- E89* (p.Glu89Ter), rs1662601425, ClinVar RCV004560356, ClinVar RCV005254906, ClinVar RCV006488922, Pathogenic
- E89K (p.Glu89Lys), NCI-TCGA Cosmic COSV6467, Variant assessed as somatic; moderate impact.
- E89Q (p.Glu89Gln), NCI-TCGA Cosmic COSV6467, MetaLR 0.98, MetaSVM 1.09, Variant assessed as somatic; moderate impact.
- P91S (p.Pro91Ser), Ensembl rs865925787, MetaLR 1.00, MetaSVM 0.93
- G92E (p.Gly92Glu), rs1156558540, ClinGen CA341285401, ClinVar RCV001100158, TOPMed rs1156558540, REVEL 0.84, MetaLR 1.00, Uncertain significance, ABCA4-related disorder
- G92R (p.Gly92Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I93T (p.Ile93Thr), gnomAD rs1386926864, REVEL 0.28, MetaLR 0.72
- V94A (p.Val94Ala), TOPMed rs1382695024, gnomAD rs1382695024, REVEL 0.89, MetaLR 0.99
- S95L (p.Ser95Leu), rs2524007564, ClinGen CA341285373, ClinVar RCV003889532, Uncertain significance, Retinal dystrophy
- S95P (p.Ser95Pro), TOPMed rs1312265858, gnomAD rs1312265858, REVEL 0.80, MetaLR 0.95
- S95T (p.Ser95Thr), TOPMed rs1312265858, gnomAD rs1312265858, REVEL 0.64, MetaLR 0.95
- N96D (p.Asn96Asp), rs61748529, ClinGen CA227042, ClinVar RCV000085515, ClinVar RCV000986376, REVEL 0.77, MetaLR 0.99, Pathogenic/Likely pathogenic, Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- N96H (p.Asn96His), rs61748529, ClinGen CA227041, ClinVar RCV000085514, ClinVar RCV005400423, REVEL 0.91, MetaLR 0.99, Pathogenic/Likely pathogenic, not provided; Severe early-childhood-onset retinal dystrophy
- N96I (p.Asn96Ile), rs2101162260, ClinGen CA341285362, ClinVar RCV002007319, Ensembl rs2101162260, AlphaMissense 0.82, MetaLR 0.99, Pathogenic, not provided
- N96K (p.Asn96Lys), rs886039297, ClinGen CA10588305, ClinVar RCV000255898, ClinVar RCV004816463, REVEL 0.85, MetaLR 0.99, Conflicting interpretations, Retinal dystrophy; not provided
- Y97C (p.Tyr97Cys), rs755691060, ClinGen CA958886, ClinVar RCV001362207, ClinVar RCV005408867, REVEL 0.83, MetaLR 0.75, Conflicting interpretations, not provided; not specified
- N98K (p.Asn98Lys), rs145133167, ClinGen CA958885, ClinVar RCV000254775, ClinVar RCV001075836, REVEL 0.49, MetaLR 0.84, Conflicting interpretations, Retinal dystrophy; not provided
- N99D (p.Asn99Asp), 1000Genomes rs575809706, ExAC rs575809706, gnomAD rs575809706, REVEL 0.07, MetaLR 0.04
- N99H (p.Asn99His), 1000Genomes rs575809706, ExAC rs575809706, gnomAD rs575809706, REVEL 0.27, MetaLR 0.22
- N99S (p.Asn99Ser), gnomAD rs1380689567, REVEL 0.17, MetaLR 0.13
- S100P (p.Ser100Pro), rs61748530, ClinGen CA227065, ClinVar RCV000085534, ClinVar RCV001074423, REVEL 0.76, MetaLR 0.33, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided
- I101T (p.Ile101Thr), gnomAD rs1390936521, REVEL 0.34, MetaLR 0.18
- I101V (p.Ile101Val), NCI-TCGA Cosmic COSV6467, Variant assessed as somatic; moderate impact.
- L102F (p.Leu102Phe), rs1054538871, ClinGen CA26895942, ClinVar RCV001367776, gnomAD rs1054538871, REVEL 0.81, MetaLR 0.89, Uncertain significance, not provided
- A103T (p.Ala103Thr), gnomAD rs1167101620, REVEL 0.71, MetaLR 0.87
- R104G (p.Arg104Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R104M (p.Arg104Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R104S (p.Arg104Ser), Ensembl rs1662509162, Likely benign
- V105G (p.Val105Gly), Ensembl rs1570430907, MetaLR 0.75, MetaSVM 0.65
- Y106* (p.Tyr106Ter), rs1662508844, ClinGen CA341293221, ClinVar RCV003562274, Ensembl rs1662508844, Pathogenic
- Y106F (p.Tyr106Phe), rs201150919, ClinGen CA958865, ClinVar RCV001100157, ClinVar RCV001520655, REVEL 0.26, MetaLR 0.32, Conflicting interpretations, ABCA4-related disorder; Retinal dystrophy; not provided
- R107G (p.Arg107Gly), rs765429911, ClinGen CA26895916, ClinVar RCV002601519, ExAC rs765429911, REVEL 0.37, MetaLR 0.66, Uncertain significance, not provided
- R107Q (p.Arg107Gln), rs759799179, ClinGen CA958863, NCI-TCGA Cosmic COSV6467, REVEL 0.23, MetaLR 0.61, Conflicting interpretations, not provided; Severe early-childhood-onset retinal dystrophy; Retinitis pigmento
Public ABCA4 analysis runs
- ABCA4 analysis run — ABCA4 (3,721 variants) — completed 2026-08-18