BEST1 (Bestrophin-1) variants and mutations
BEST1 (also known as Bestrophin-1) is a human protein-coding gene encoding a bestrophin-1 protein. It helps regulate ion transport and fluid homeostasis across the retinal pigment epithelium. Pathogenic variants cause bestrophinopathies including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, and some retinitis pigmentosa phenotypes. This analysis covers 1,181 BEST1 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes vitelliform macular dystrophy 2, autosomal recessive bestrophinopathy, and Best vitelliform macular dystrophy. Example BEST1 variants include M1V, T2S, and T2T.
Variant analysis overview
- Gene: BEST1
- Protein: Bestrophin-1
- UniProt accession: O76090
- Organism: Homo sapiens
- Variants analyzed: 1181
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 972 unspecified-consequence records; 84 synonymous variants; 85 missense variants; 9 stop-gained variants; 5 in-frame deletions; 18 frameshift variants; 3 splice-region variants; 5 substitution
- Prediction scores: 943 variants have prediction scores (80% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: vitelliform macular dystrophy 2, autosomal recessive bestrophinopathy, Best vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, retinitis pigmentosa 50, retinitis pigmentosa, MRCS syndrome, Retinal dystrophy, BEST1-related dominant retinopathy, adult-onset foveomacular vitelliform dystrophy, Stargardt disease, neurodegeneration with brain iron accumulation 9.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 5 binding sites.
- Structural context: 170 variants have structural context.
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, MaveDB, LitVar.
Notable BEST1 variants
Examples include M1V, T2S, T2T, I3N, I3T, I3V, T4I, T4N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1V (p.Met1Val), rs2541331724, ClinGen CA380830742, ClinVar RCV003019263, Pathogenic, not provided
- T2S (p.Thr2Ser), rs1209208472, ClinGen CA380830817, ClinVar RCV001074250, ClinVar RCV001862547, REVEL 0.96, CADD 21.90, Pathogenic/Likely pathogenic, not provided; Retinal dystrophy
- T2T (p.Thr2Thr), rs2134409027, gnomAD 11-61951812-C-T, CADD 12.10
- I3N (p.Ile3Asn), rs907161461, ClinGen CA222931095, ClinVar RCV002025569, TOPMed rs907161461, AlphaMissense 0.81, MetaLR 0.96, Pathogenic, not provided
- I3T (p.Ile3Thr), UniProt VAR 058273, Pathogenic, in VMD2
- I3V (p.Ile3Val), gnomAD 11-61951813-A-G, REVEL 0.41, CADD 16.00
- T4I (p.Thr4Ile), rs368383940, ClinGen CA380830876, ClinVar RCV001090318, ClinVar RCV004798885, AlphaMissense 0.92, MetaLR 0.98, Pathogenic/Likely pathogenic, not provided; Macular dystrophy
- T4N (p.Thr4Asn), ESP rs368383940, ExAC rs368383940, TOPMed rs368383940, gnomAD rs368383940, REVEL 0.87, AlphaMissense 0.92, Pathogenic
- Y5N (p.Tyr5Asn), rs2541331793, ClinGen CA380830883, ClinVar RCV003015947, Uncertain significance, not provided
- Y5* (p.Tyr5Ter), gnomAD 11-61951821-C-A, CADD 20.70
- T6A (p.Thr6Ala), rs28940275, ClinGen CA380830940, ClinVar RCV001064472, ClinVar RCV001074422, AlphaMissense 0.77, MetaLR 0.97, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- T6K (p.Thr6Lys), rs281865204, ClinGen CA380830946, ClinVar RCV002289134, ClinVar RCV003560932, AlphaMissense 0.94, MetaLR 0.97, Pathogenic/Likely pathogenic, not provided; Retinal dystrophy; Vitelliform macular dystrophy 2
- T6P (p.Thr6Pro), rs28940275, ClinGen CA227736, ClinVar RCV000002851, ClinVar RCV000086095, AlphaMissense 0.77, MetaLR 0.97, Pathogenic, not provided; Vitelliform macular dystrophy 2
- T6R (p.Thr6Arg), rs281865204, ClinGen CA227739, ClinVar RCV000086098, ClinVar RCV004815143, AlphaMissense 0.94, MetaLR 0.97, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided
- T6I (p.Thr6Ile), gnomAD 11-61951823-C-T, REVEL 0.81, CADD 22.20
- S7N (p.Ser7Asn), rs199508634, ClinGen CA6040659, ClinVar RCV001209187, ClinVar RCV005359942, REVEL 0.35, CADD 14.40, Uncertain significance, BEST1-related dominant retinopathy; not provided
- Q8* (p.Gln8Ter), TOPMed rs1350856823, gnomAD rs1350856823, CADD 16.80
- Q8del (p.Gln8del), gnomAD 11-61951827-CCAA-, CADD 16.80
- Q8K (p.Gln8Lys), gnomAD 11-61951828-C-A, REVEL 0.44, CADD 14.40
- Q8H (p.Gln8His), gnomAD 11-61951830-A-C, REVEL 0.59, CADD 16.60
- V9A (p.Val9Ala), rs281865205, ClinGen CA227752, ClinVar RCV000086111, UniProt VAR 000831, AlphaMissense 0.83, MetaLR 0.98, Pathogenic, not provided
- V9G (p.Val9Gly), rs281865205, ClinGen CA380831072, ClinVar RCV000664327, Ensembl rs281865205, AlphaMissense 0.83, MetaLR 0.98, Likely pathogenic, Vitelliform macular dystrophy 2
- V9L (p.Val9Leu), rs28940276, ClinGen CA380831065, ClinVar RCV001922643, ClinVar RCV004815745, AlphaMissense 0.98, MetaLR 0.98, Pathogenic/Likely pathogenic, not provided; Retinal dystrophy
- V9M (p.Val9Met), rs28940276, ClinGen CA227751, ClinVar RCV000002855, ClinVar RCV000086110, AlphaMissense 0.98, MetaLR 0.98, Pathogenic, Retinal dystrophy
- V9V (p.Val9Val), gnomAD 11-61951833-G-T, CADD 20.30
- A10T (p.Ala10Thr), rs281865206, ClinGen CA227759, ClinVar RCV000086118, ClinVar RCV001073998, REVEL 0.90, CADD 21.10, Pathogenic, Retinal dystrophy; not provided
- A10V (p.Ala10Val), rs281865207, ClinGen CA227762, ClinVar RCV000086121, ClinVar RCV001002886, REVEL 0.95, CADD 22.30, Pathogenic, not provided
- A10S (p.Ala10Ser), gnomAD 11-61951834-G-T, REVEL 0.72, CADD 22.20
- N11D (p.Asn11Asp), cosmic curated COSV57121
- N11I (p.Asn11Ile), rs281865208, ClinGen CA227769, ClinVar RCV000086127, UniProt VAR 017367, AlphaMissense 0.80, MetaLR 0.96, not provided
- N11K (p.Asn11Lys), rs281865531, ClinGen CA380831152, ClinVar RCV000497774, ClinVar RCV004816733, AlphaMissense 0.51, MetaLR 0.93, Likely pathogenic, not provided
- N11S (p.Asn11Ser), rs281865208, ClinGen CA6040660, ClinVar RCV001983998, ESP rs281865208, AlphaMissense 0.80, MetaLR 0.96, Likely pathogenic, not provided
- N11N (p.Asn11Asn), rs281865531, gnomAD 11-61951839-T-C, AlphaMissense 0.51, MetaLR 0.93
- A12D (p.Ala12Asp), rs1940692591, ClinGen CA380831171, ClinVar RCV003697537, AlphaMissense 0.49, MetaLR 0.96, Uncertain significance, not provided
- A12G (p.Ala12Gly), rs1940692591, ClinGen CA380831179, ClinVar RCV001073514, ClinVar RCV002283522, AlphaMissense 0.49, MetaLR 0.96, Uncertain significance, Vitelliform macular dystrophy 2; Retinal dystrophy
- A12V (p.Ala12Val), rs1940692591, ClinGen CA380831184, ClinVar RCV002303914, REVEL 0.79, AlphaMissense 0.49, Uncertain significance, not provided
- A12A (p.Ala12Ala), rs773151223, gnomAD 11-61951842-C-A, CADD 16.70
- R13C (p.Arg13Cys), rs886041141, ClinGen CA10603118, NCI-TCGA Cosmic COSV1000, cosmic curated COSV10007, REVEL 0.91, AlphaMissense 0.18, Pathogenic/Likely pathogenic, not provided; Macular dystrophy; Retinal dystrophy
- R13G (p.Arg13Gly), rs886041141, ClinGen CA380831194, ClinVar RCV000513111, ClinVar RCV001199441, AlphaMissense 0.18, MetaLR 0.97, Pathogenic/Likely pathogenic, not provided; Isolated macular dystrophy
- R13H (p.Arg13His), rs281865209, ClinGen CA227774, NCI-TCGA Cosmic COSV5712, cosmic curated COSV57120, REVEL 0.72, AlphaMissense 0.81, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided; Autosomal recessive bestrophinopathy
- R13L (p.Arg13Leu), NCI-TCGA Cosmic COSV5712, Variant assessed as somatic; moderate impact., in VMD2
- R13P (p.Arg13Pro), rs281865209, ClinGen CA16621619, ClinVar RCV000487671, ExAC rs281865209, AlphaMissense 0.81, MetaLR 0.96, Likely pathogenic, not provided
- R13R (p.Arg13Arg), rs1940694228, gnomAD 11-61951845-C-T, CADD 16.20
- L14S (p.Leu14Ser), rs2541332010, ClinGen CA380831214, ClinVar RCV002842822, Uncertain significance, not provided
- L14L (p.Leu14Leu), gnomAD 11-61951846-T-C, CADD 6.06
- G15A (p.Gly15Ala), ExAC rs766379510, gnomAD rs766379510, REVEL 0.81, AlphaMissense 0.94, Uncertain significance, Retinitis pigmentosa 50; Autosomal recessive bestrophinopathy; Autosomal dominan
- G15D (p.Gly15Asp), rs766379510, ClinGen CA380831276, ClinVar RCV000494235, ClinVar RCV004816728, AlphaMissense 0.94, MetaLR 0.97, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided
- G15G (p.Gly15Gly), gnomAD 11-61951851-C-A, CADD 18.80
- S16F (p.Ser16Phe), rs281865210, ClinGen CA227783, ClinVar RCV000086138, UniProt VAR 010470, AlphaMissense 0.56, MetaLR 0.96, Pathogenic, not provided
- S16P (p.Ser16Pro), rs2541332053, ClinGen CA380831301, ClinVar RCV003547669, Likely pathogenic, not provided
- S16Y (p.Ser16Tyr), rs281865210, ClinGen CA380831310, ClinVar RCV001297133, Ensembl rs281865210, AlphaMissense 0.56, MetaLR 0.96, Pathogenic, not provided
- F17C (p.Phe17Cys), rs281865211, ClinGen CA227784, ClinVar RCV000086139, UniProt VAR 010471, AlphaMissense 0.98, MetaLR 0.98, not provided
- F17I (p.Phe17Ile), rs1940696088, ClinGen CA380831322, ClinVar RCV001241890, Ensembl rs1940696088, AlphaMissense 0.95, MetaLR 0.98, Likely pathogenic, not provided
- F17L (p.Phe17Leu), rs1940696725, ClinGen CA380831335, ClinVar RCV001760875, gnomAD rs1940696725, REVEL 0.94, CADD 21.50, Likely pathogenic, not provided
- F17Y (p.Phe17Tyr), rs281865211, ClinGen CA380831331, ClinVar RCV001090319, Ensembl rs281865211, AlphaMissense 0.98, MetaLR 0.98, Likely pathogenic, not provided
- S18P (p.Ser18Pro), ExAC rs755109384, gnomAD rs755109384, REVEL 0.86, CADD 21.50
- S18S (p.Ser18Ser), gnomAD 11-61951860-C-T, CADD 14.10
- R19C (p.Arg19Cys), rs765385264, ClinGen CA6040665, NCI-TCGA Cosmic COSV5712, cosmic curated COSV57120, REVEL 0.63, CADD 19.40, Conflicting interpretations, Retinal dystrophy; not provided; BEST1-related dominant retinopathy
- R19H (p.Arg19His), rs752923595, ClinGen CA6040666, cosmic curated COSV10511, ClinVar RCV002006249, REVEL 0.68, CADD 21.10, Conflicting interpretations, Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autosomal dominant vit
- R19S (p.Arg19Ser), ExAC rs765385264, TOPMed rs765385264, gnomAD rs765385264, REVEL 0.63, CADD 19.50, Likely pathogenic
- L20P (p.Leu20Pro), rs2541332164, ClinGen CA380831399, ClinVar RCV003566607, Likely pathogenic, not provided
- L20V (p.Leu20Val), rs1591266379, ClinGen CA380831385, ClinVar RCV000787542, Ensembl rs1591266379, AlphaMissense 0.46, MetaLR 0.96, Pathogenic, Vitelliform macular dystrophy 2
- L21M (p.Leu21Met), cosmic curated COSV57120
- L21P (p.Leu21Pro), ExAC rs758726044, gnomAD rs758726044, REVEL 0.99, AlphaMissense 0.97, Likely pathogenic, in VMD2
- L21Q (p.Leu21Gln), rs758726044, ClinGen CA380831401, ClinVar RCV001976261, ExAC rs758726044, AlphaMissense 0.97, MetaLR 0.98, Likely pathogenic, not provided
- L21R (p.Leu21Arg), rs758726044, ClinGen CA380831403, ClinVar RCV003079124, ClinVar RCV004817222, AlphaMissense 0.97, MetaLR 0.98, Pathogenic/Likely pathogenic, not provided; Retinal dystrophy
- L21V (p.Leu21Val), rs281865212, ClinGen CA227786, ClinVar RCV000086143, ClinVar RCV005252757, REVEL 0.91, CADD 20.50, Pathogenic/Likely pathogenic, not provided; Vitelliform macular dystrophy 2
- L21L (p.Leu21Leu), gnomAD 11-61951869-G-T, CADD 17.40
- L22L (p.Leu22Leu), rs778023643, gnomAD 11-61951870-C-T, CADD 21.00
- C23Y (p.Cys23Tyr), NCI-TCGA Cosmic COSV5712, cosmic curated COSV57120, Variant assessed as somatic; moderate impact.
- C23C (p.Cys23Cys), rs1465486114, gnomAD 11-61951875-C-T, CADD 21.20
- W24* (p.Trp24Ter), gnomAD rs1402176267, CADD 22.50, Pathogenic, in VMD2
- W24C (p.Trp24Cys), rs281865213, ClinGen CA227816, ClinVar RCV000086168, ClinVar RCV004815155, AlphaMissense 0.99, MetaLR 0.98, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- W24R (p.Trp24Arg), rs1334381137, ClinGen CA380831459, ClinVar RCV001365440, ClinVar RCV002223306, REVEL 0.98, CADD 22.50, Likely pathogenic, not provided
- R25G (p.Arg25Gly), ExAC rs281865214, TOPMed rs281865214, gnomAD rs281865214, REVEL 0.83, CADD 21.10, Pathogenic, in VMD2
- R25Q (p.Arg25Gln), rs281865215, ClinGen CA227818, ClinVar RCV000086170, ClinVar RCV001002887, REVEL 0.77, CADD 20.50, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided; Autosomal recessive bestrophinopathy
- R25W (p.Arg25Trp), rs281865214, ClinGen CA227817, NCI-TCGA Cosmic COSV5712, cosmic curated COSV57120, REVEL 0.83, CADD 19.80, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- R25R (p.Arg25Arg), rs281865214, gnomAD 11-61951879-C-A, CADD 18.90
- G26A (p.Gly26Ala), cosmic curated COSV57120, ExAC rs748684128, gnomAD rs748684128, REVEL 0.90, CADD 22.20, Likely pathogenic, in VMD2
- G26D (p.Gly26Asp), rs748684128, ClinGen CA380831533, ClinVar RCV001074525, ClinVar RCV003546612, REVEL 0.99, CADD 22.30, Conflicting interpretations, Retinal dystrophy; Vitelliform macular dystrophy 2; not provided
- G26R (p.Gly26Arg), UniProt VAR 017368, Pathogenic, in VMD2
- G26S (p.Gly26Ser), rs2134409637, ClinGen CA380831522, ClinVar RCV001980556, Ensembl rs2134409637, AlphaMissense 0.90, MetaLR 0.98, Likely pathogenic, not provided
- G26C (p.Gly26Cys), gnomAD 11-61951882-G-T, REVEL 0.98, CADD 22.20
- G26V (p.Gly26Val), gnomAD 11-61951883-G-T, REVEL 0.99, CADD 22.20
- G26G (p.Gly26Gly), rs768284216, gnomAD 11-61951884-C-G, CADD 18.80
- S27G (p.Ser27Gly), rs2134409684, ClinGen CA380831557, ClinVar RCV001990454, ClinVar RCV005623103, AlphaMissense 0.81, MetaLR 0.98, Pathogenic/Likely pathogenic, not provided; Vitelliform macular dystrophy 2
- S27N (p.Ser27Asn), rs1301396112, ClinGen CA380831567, ClinVar RCV001971243, gnomAD rs1301396112, AlphaMissense 0.98, MetaLR 0.98, Likely pathogenic, not provided
- S27R (p.Ser27Arg), rs281865216, ClinGen CA227819, ClinVar RCV000086171, ClinVar RCV004815158, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Retinal dystrophy
- S27S (p.Ser27Ser), gnomAD 11-61951887-C-T, CADD 21.60
- Y29* (p.Tyr29Ter), rs121918285, ClinGen CA252409, ClinVar RCV000002849, ClinVar RCV001851591, CADD 17.90, Pathogenic, in VMD2
- Y29C (p.Tyr29Cys), rs1565382549, ClinGen CA380831624, ClinVar RCV000761419, ClinVar RCV001228226, AlphaMissense 0.75, MetaLR 0.98, Likely pathogenic, not provided; Vitelliform macular dystrophy 2
- Y29H (p.Tyr29His), rs281865217, ClinGen CA227825, ClinVar RCV000086175, UniProt VAR 017369, REVEL 0.99, CADD 22.50, Pathogenic, not provided
- Y29Y (p.Tyr29Tyr), rs121918285, gnomAD 11-61951893-C-T, CADD 19.20
- K30R (p.Lys30Arg), rs281865218, ClinGen CA227840, ClinVar RCV000086188, ClinVar RCV000761260, REVEL 0.92, CADD 22.40, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- K30N (p.Lys30Asn), gnomAD 11-61951896-G-C, REVEL 0.91, CADD 17.40
- L31R (p.Leu31Arg), rs2541332491, ClinGen CA380831688, ClinVar RCV003691651, Likely pathogenic, not provided
- L31V (p.Leu31Val), TOPMed rs1940703696
- L31L (p.Leu31Leu), gnomAD 11-61951897-C-T, CADD 21.50
- L32P (p.Leu32Pro), rs1591266591, ClinGen CA380831709, ClinVar RCV000787797, ClinVar RCV001338345, AlphaMissense 0.97, MetaLR 0.97, Pathogenic/Likely pathogenic, not provided
- Y33D (p.Tyr33Asp), rs994248373, ClinGen CA380831717, ClinVar RCV001074809, TOPMed rs994248373, AlphaMissense 0.80, MetaLR 0.98, Uncertain significance, Retinal dystrophy
- Y33H (p.Tyr33His), rs994248373, ClinGen CA222931362, ClinVar RCV001074571, ClinVar RCV001242037, REVEL 0.99, AlphaMissense 0.80, Conflicting interpretations, not provided; Retinal dystrophy
- Y33Y (p.Tyr33Tyr), rs373950010, gnomAD 11-61951905-T-C, CADD 3.68
- G34D (p.Gly34Asp), gnomAD rs1192923897, REVEL 0.70, CADD 20.50
- G34S (p.Gly34Ser), gnomAD rs1479800797, REVEL 0.43, CADD 20.50
- G34C (p.Gly34Cys), gnomAD 11-61951906-G-T, REVEL 0.46, CADD 19.70
- G34G (p.Gly34Gly), rs771898125, gnomAD 11-61951908-C-T, CADD 22.00
- E35D (p.Glu35Asp), rs2134409890, ClinGen CA380831794, ClinVar RCV002264905, Ensembl rs2134409890, AlphaMissense 0.71, MetaLR 0.95, Uncertain significance, Autosomal recessive bestrophinopathy
- E35K (p.Glu35Lys), rs886041142, ClinGen CA10603253, ClinVar RCV000356527, ClinVar RCV003152701, REVEL 0.98, CADD 22.30, Pathogenic/Likely pathogenic, BEST1-related disorder; Retinal dystrophy; not provided
- F36I (p.Phe36Ile), ExAC rs772850879, gnomAD rs772850879, REVEL 0.89, CADD 21.70, Likely pathogenic, Retinal dystrophy
- F36L (p.Phe36Leu), Ensembl rs955214914, REVEL 0.63, CADD 15.70
- L37I (p.Leu37Ile), 1000Genomes rs1800007, ESP rs1800007, ExAC rs1800007, TOPMed rs1800007, Benign
- L37P (p.Leu37Pro), rs2134409956, ClinGen CA2573147306, ClinVar RCV001911840, Ensembl rs2134409956, Uncertain significance, not provided
- L37S (p.Leu37Ser), TOPMed rs1290876075, REVEL 0.65, CADD 20.50
- L37V (p.Leu37Val), 1000Genomes rs1800007, ESP rs1800007, ExAC rs1800007, TOPMed rs1800007, Benign
- L37L (p.Leu37Leu), rs1800007, gnomAD 11-61951915-T-C, CADD 11.30
- I38F (p.Ile38Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I38S (p.Ile38Ser), rs1064796849, ClinGen CA16619353, ClinVar RCV000479652, Ensembl rs1064796849, AlphaMissense 0.49, MetaLR 0.97, Conflicting interpretations, not provided
- I38G (p.Ile38Gly), gnomAD 11-61951915-T-TTG, CADD 17.70
- I38T (p.Ile38Thr), gnomAD 11-61951919-T-C, REVEL 0.88, CADD 22.00
- F39L (p.Phe39Leu), TOPMed rs1211789024, gnomAD rs1211789024, REVEL 0.95, CADD 22.10
- F39S (p.Phe39Ser), cosmic curated COSV57122, Ensembl rs1018427385
- F39C (p.Phe39Cys), gnomAD 11-61951922-T-G, REVEL 0.95, CADD 21.70
- F39F (p.Phe39Phe), rs1465926336, gnomAD 11-61951923-C-T, CADD 18.60
- L40P (p.Leu40Pro), UniProt VAR 075346, REVEL 0.68, CADD 20.10, Uncertain significance, not provided
- L40V (p.Leu40Val), TOPMed rs1940710030, gnomAD rs1940710030, REVEL 0.29, CADD 15.30, Uncertain significance, in ARB
- L41F (p.Leu41Phe), ExAC rs776643603, gnomAD rs776643603
- L41P (p.Leu41Pro), rs121918288, ClinGen CA115728, ClinVar RCV000002866, ClinVar RCV000086085, REVEL 0.63, CADD 16.90, Pathogenic/Likely pathogenic, Retinal dystrophy; not provided
- Y43* (p.Tyr43Ter), cosmic curated COSV57119
- Y43C (p.Tyr43Cys), gnomAD 11-61951934-A-G, REVEL 0.96, CADD 21.10
- Y44Y (p.Tyr44Tyr), rs201476918, gnomAD 11-61951938-C-T, CADD 11.40
- I45V (p.Ile45Val), rs1940711760, ClinGen CA380832054, ClinVar RCV002575275, ClinVar RCV004064377, REVEL 0.30, CADD 1.73, Uncertain significance, Inborn genetic diseases; not provided
- I45S (p.Ile45Ser), gnomAD 11-61951940-T-G, REVEL 0.35, CADD 0.09
- I45N (p.Ile45Asn), gnomAD 11-61951940-T-A, REVEL 0.53, CADD 0.08
- I45I (p.Ile45Ile), rs2134410137, gnomAD 11-61951941-C-T, CADD 8.34
- I46T (p.Ile46Thr), rs989919477, ClinGen CA222931409, ClinVar RCV002041831, TOPMed rs989919477, REVEL 0.84, CADD 17.80, Uncertain significance, not provided
- I46I (p.Ile46Ile), gnomAD 11-61951944-C-T, CADD 11.10
- R47C (p.Arg47Cys), rs765333778, ClinGen CA6040678, ClinVar RCV001376914, ExAC rs765333778, REVEL 0.67, CADD 16.30, Pathogenic/Likely pathogenic, not provided
- R47G (p.Arg47Gly), cosmic curated COSV57121
- R47H (p.Arg47His), rs28940278, ClinGen CA227724, NCI-TCGA Cosmic COSV5712, cosmic curated COSV57122, REVEL 0.70, AlphaMissense 0.28, Pathogenic/Likely pathogenic, Retinitis pigmentosa 50; Vitelliform macular dystrophy 2; Autosomal recessive be
- R47L (p.Arg47Leu), rs28940278, ClinGen CA380832164, ClinVar RCV003055833, ExAC rs28940278, AlphaMissense 0.28, MetaLR 0.93, Likely pathogenic, not provided
- R47P (p.Arg47Pro), ExAC rs28940278, TOPMed rs28940278, gnomAD rs28940278, REVEL 0.78, AlphaMissense 0.28, Pathogenic, in VMD2
- R47S (p.Arg47Ser), gnomAD 11-61951945-C-A, REVEL 0.53, CADD 15.80
- F48L (p.Phe48Leu), TOPMed rs1281909410, gnomAD rs1281909410, REVEL 0.34, CADD 8.15
- F48V (p.Phe48Val), TOPMed rs1281909410, gnomAD rs1281909410
- I49M (p.Ile49Met), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10007, Variant assessed as somatic; moderate impact.
- I49T (p.Ile49Thr), rs1406033170, ClinGen CA380832202, ClinVar RCV003673044, gnomAD rs1406033170, REVEL 0.50, CADD 14.40, Uncertain significance, not provided
- Y50Y (p.Tyr50Tyr), rs763141918, gnomAD 11-61951956-T-C, CADD 1.64
- Y50* (p.Tyr50Ter), gnomAD 11-61951956-T-A, CADD 1.43
- R51* (p.Arg51Ter), cosmic curated COSV57120
- R51K (p.Arg51Lys), rs914504094, ClinGen CA222931452, ClinVar RCV002034996, gnomAD rs914504094, REVEL 0.86, CADD 26.00, Uncertain significance, not provided
- R51S (p.Arg51Ser), ExAC rs751807541, gnomAD rs751807541, REVEL 0.86, CADD 19.30
- L52M (p.Leu52Met), ExAC rs762040678, gnomAD rs762040678, REVEL 0.24, CADD 9.30
- L52P (p.Leu52Pro), gnomAD rs925342184, REVEL 0.70, CADD 9.25
- L52Q (p.Leu52Gln), gnomAD rs925342184
- L52L (p.Leu52Leu), rs762040678, gnomAD 11-61955108-C-T, CADD 10.20
- p.Leu52 Ala53delinsPro, gnomAD 11-61955108-CTGG-, CADD 13.30
- A53P (p.Ala53Pro), gnomAD 11-61955109-TGG-T, CADD 14.90
- A53S (p.Ala53Ser), gnomAD 11-61955111-G-T, REVEL 0.46, CADD 15.30
- A53A (p.Ala53Ala), rs375873874, gnomAD 11-61955113-C-A, CADD 9.54
- L54P (p.Leu54Pro), cosmic curated COSV10964, gnomAD rs1360586108, REVEL 0.94, CADD 18.60
- L54L (p.Leu54Leu), rs368518407, gnomAD 11-61955116-C-T, CADD 13.90
- T55M (p.Thr55Met), rs756657082, ClinGen CA6040707, ClinVar RCV002042563, ExAC rs756657082, REVEL 0.47, CADD 11.20, Uncertain significance, not provided
- T55P (p.Thr55Pro), gnomAD rs1318209144, REVEL 0.56, CADD 10.90
- T55T (p.Thr55Thr), gnomAD 11-61955119-G-C, CADD 1.04
- E56A (p.Glu56Ala), TOPMed rs1285188919, gnomAD rs1285188919, REVEL 0.50, CADD 14.10
- E57* (p.Glu57Ter), rs1382219910, ClinGen CA380833520, ClinVar RCV001073429, gnomAD rs1382219910, CADD 12.20, Likely pathogenic
- E57D (p.Glu57Asp), rs200235532, ClinGen CA6040708, ClinVar RCV001897512, ExAC rs200235532, REVEL 0.37, CADD 0.57, Uncertain significance, not provided
- E57K (p.Glu57Lys), cosmic curated COSV10511
- E57Q (p.Glu57Gln), cosmic curated COSV10511
- E57del (p.Glu57del), rs1480112811, gnomAD 11-61955119-GGAA-, CADD 10.40
- Q58E (p.Gln58Glu), rs1591280478, ClinGen CA380833534, ClinVar RCV000988567, Ensembl rs1591280478, AlphaMissense 0.15, MetaLR 0.96, Likely pathogenic, Vitelliform macular dystrophy 2
- Q58L (p.Gln58Leu), rs281865529, ClinGen CA227737, ClinVar RCV000086096, ClinVar RCV004815142, AlphaMissense 0.48, MetaLR 0.96, Likely pathogenic, Retinal dystrophy
- Q58H (p.Gln58His), rs672601356, gnomAD 11-61955124-A-AAC, CADD 8.64
- Q58Q (p.Gln58Gln), gnomAD 11-61955128-A-G, CADD 15.70
- Q59L (p.Gln59Leu), gnomAD rs1941144580, REVEL 0.74, CADD 18.80
- Q59del (p.Gln59del), rs1221728254, gnomAD 11-61955123-GAAC-, CADD 16.40
- L60P (p.Leu60Pro), rs2541353658, ClinGen CA380833577, ClinVar RCV003053666, REVEL 0.70, CADD 14.00, Uncertain significance, not provided
- L60L (p.Leu60Leu), gnomAD 11-61955134-G-T, CADD 18.30
- M61I (p.Met61Ile), ExAC rs757939429, gnomAD rs757939429
- M61L (p.Met61Leu), gnomAD rs1311825235
Public BEST1 analysis runs
- BEST1 analysis run — BEST1 (1,181 variants) — completed 2026-08-19