DDC (P20711) variants and mutations
DDC (also known as P20711) is a human protein-coding gene encoding an aromatic-L-amino-acid decarboxylase protein. It converts L-DOPA to dopamine and 5-hydroxytryptophan to serotonin, making it essential for monoamine neurotransmitter synthesis. Biallelic loss-of-function variants cause aromatic L-amino-acid decarboxylase deficiency with severe movement and autonomic abnormalities. This analysis covers 903 DDC variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes aromatic L-amino acid decarboxylase deficiency, Parkinson disease, and hereditary disease. Example DDC variants include M1?, N2I, and A3T.
Variant analysis overview
- Gene: DDC
- Protein: P20711
- UniProt accession: P20711
- Organism: Homo sapiens
- Variants analyzed: 903
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 745 unspecified-consequence records; 1 stop lost; 58 synonymous variants; 75 missense variants; 2 in-frame insertions; 10 frameshift variants; 3 in-frame deletions; 6 splice-region variants; 2 stop-gained variants; 1 substitution
- Prediction scores: 634 variants have prediction scores (70% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: aromatic L-amino acid decarboxylase deficiency, Parkinson disease, hereditary disease, Abnormality of the skeletal system, injury, inborn disorder of amino acid metabolism, Global developmental delay, postencephalitic Parkinson disease, Dystonia, oculogyric crisis, Hypotonia, secondary Parkinson disease.
Protein structure and variant hotspots
- Protein features: 6 binding sites; 2 post-translational modification sites.
- PTM context: 1 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, MaveDB, LitVar.
Notable DDC variants
Examples include M1?, N2I, A3T, S4I, S4R, S4T, F6L, R7*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV63564
- N2I (p.Asn2Ile), ExAC rs760033012, gnomAD rs760033012, REVEL 0.25, CADD 22.60
- A3T (p.Ala3Thr), rs766408460, ClinGen CA4262523, ClinVar RCV001163926, ClinVar RCV002558579, REVEL 0.05, CADD 0.00, Likely benign
- S4I (p.Ser4Ile), ExAC rs769697130, TOPMed rs769697130, gnomAD rs769697130, REVEL 0.14, CADD 14.20
- S4R (p.Ser4Arg), ExAC rs773401629, gnomAD rs773401629
- S4T (p.Ser4Thr), ExAC rs769697130, TOPMed rs769697130, gnomAD rs769697130, REVEL 0.07, CADD 5.24
- F6L (p.Phe6Leu), gnomAD rs1287025678, REVEL 0.46, CADD 24.10
- R7* (p.Arg7Ter), rs138828136, ClinGen CA4262519, cosmic curated COSV63565, ClinVar RCV001336994, CADD 35.00, Pathogenic
- R7G (p.Arg7Gly), ESP rs138828136, ExAC rs138828136, TOPMed rs138828136, gnomAD rs138828136, REVEL 0.39, CADD 23.70, Pathogenic
- R7L (p.Arg7Leu), cosmic curated COSV10527
- R7Q (p.Arg7Gln), rs200792455, ClinGen CA4262518, cosmic curated COSV63564, ClinVar RCV000347872, REVEL 0.32, CADD 24.50, Uncertain significance
- R8K (p.Arg8Lys), TOPMed rs1409597241, gnomAD rs1409597241, REVEL 0.07, CADD 8.40
- R8S (p.Arg8Ser), 1000Genomes rs74987565, TOPMed rs74987565
- R8T (p.Arg8Thr), TOPMed rs1409597241, gnomAD rs1409597241
- R9K (p.Arg9Lys), TOPMed rs2044725422
- R9T (p.Arg9Thr), cosmic curated COSV63566
- G10E (p.Gly10Glu), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, Variant assessed as somatic; moderate impact.
- G10R (p.Gly10Arg), Ensembl rs1563044827, REVEL 0.56, CADD 24.20
- G10V (p.Gly10Val), gnomAD rs1250346309, REVEL 0.47, CADD 23.60
- E12* (p.Glu12Ter), Ensembl rs2044724655
- E12D (p.Glu12Asp), NCI-TCGA Cosmic COSV6356, cosmic curated COSV63566, Variant assessed as somatic; moderate impact.
- M13I (p.Met13Ile), rs2044724081, ClinGen CA367532259, ClinVar RCV001953946, TOPMed rs2044724081, REVEL 0.35, CADD 23.40, Uncertain significance
- M13T (p.Met13Thr), TOPMed rs2044724209, gnomAD rs2044724209, REVEL 0.48, CADD 23.30
- M13V (p.Met13Val), Ensembl rs796887271
- V14M (p.Val14Met), ExAC rs746900309, gnomAD rs746900309, REVEL 0.37, CADD 24.20
- D15N (p.Asp15Asn), ExAC rs779747158, TOPMed rs779747158, gnomAD rs779747158
- Y16* (p.Tyr16Ter), ExAC rs745576871, TOPMed rs745576871, gnomAD rs745576871, CADD 25.10, Likely benign
- M17V (p.Met17Val), rs6264, ClinGen CA4262512, cosmic curated COSV10744, ClinVar RCV001518342, REVEL 0.12, CADD 1.24, Benign
- A18T (p.Ala18Thr), gnomAD rs1351341672, REVEL 0.22, CADD 21.70
- A18V (p.Ala18Val), rs1179044502, ClinGen CA367532180, ClinVar RCV001163610, TOPMed rs1179044502, REVEL 0.25, CADD 23.70, Uncertain significance, Deficiency of aromatic-L-amino-acid decarboxylase
- N19K (p.Asn19Lys), gnomAD rs1305470980, REVEL 0.06, CADD 18.20
- N19S (p.Asn19Ser), NCI-TCGA Cosmic COSV6356, cosmic curated COSV63563, REVEL 0.09, CADD 22.70, Variant assessed as somatic; moderate impact.
- Y20C (p.Tyr20Cys), NCI-TCGA TCGA novel, REVEL 0.74, CADD 27.30, Variant assessed as somatic; moderate impact.
- Y20D (p.Tyr20Asp), gnomAD rs1307434776, REVEL 0.79, CADD 26.80
- M21T (p.Met21Thr), gnomAD rs564229359, REVEL 0.18, CADD 22.80
- M21V (p.Met21Val), rs951039438, ClinGen CA158234574, ClinVar RCV001891680, TOPMed rs951039438, REVEL 0.12, CADD 0.11, Uncertain significance
- G23D (p.Gly23Asp), rs2044722637, ClinGen CA367532101, ClinVar RCV002996829, TOPMed rs2044722637, REVEL 0.07, CADD 19.30, Uncertain significance
- G23V (p.Gly23Val), rs2044722637, ClinGen CA367532096, ClinVar RCV002471920, REVEL 0.17, CADD 22.40, Likely pathogenic
- I24T (p.Ile24Thr), rs1085307991, ClinGen CA367532085, ClinVar RCV000489419, Ensembl rs1085307991, REVEL 0.48, CADD 25.60, Likely pathogenic
- E25K (p.Glu25Lys), rs756869400, ClinGen CA4262511, ClinVar RCV001756612, ClinVar RCV002539878, REVEL 0.25, CADD 21.60, Pathogenic
- G26E (p.Gly26Glu), cosmic curated COSV10527, TOPMed rs1303408405, gnomAD rs1303408405, REVEL 0.06, CADD 1.61
- G26R (p.Gly26Arg), NCI-TCGA TCGA novel, REVEL 0.04, CADD 7.82, Variant assessed as somatic; moderate impact.
- G26V (p.Gly26Val), TOPMed rs1303408405, gnomAD rs1303408405, REVEL 0.13, CADD 13.40
- R27C (p.Arg27Cys), rs752474261, ClinGen CA4262510, NCI-TCGA Cosmic COSV6356, cosmic curated COSV63567, REVEL 0.41, CADD 28.10, Uncertain significance
- R27G (p.Arg27Gly), ExAC rs752474261, TOPMed rs752474261, gnomAD rs752474261, Uncertain significance
- R27H (p.Arg27His), rs781573378, ClinGen CA4262509, NCI-TCGA Cosmic COSV6356, cosmic curated COSV63565, REVEL 0.43, CADD 26.60, Uncertain significance
- R27L (p.Arg27Leu), ExAC rs781573378, TOPMed rs781573378, gnomAD rs781573378, REVEL 0.38, CADD 25.50, Uncertain significance
- Q28* (p.Gln28Ter), rs755511752, ClinGen CA4262508, cosmic curated COSV10077, ClinVar RCV001880729, CADD 38.00, Pathogenic
- Q28R (p.Gln28Arg), Ensembl rs2153550442, REVEL 0.10, CADD 11.30
- V29F (p.Val29Phe), cosmic curated COSV63565
- V29I (p.Val29Ile), rs780962952, ClinGen CA4262507, ClinVar RCV002033381, ExAC rs780962952, REVEL 0.31, CADD 24.80, Uncertain significance
- Y30C (p.Tyr30Cys), TOPMed rs904936999, gnomAD rs904936999, REVEL 0.16, CADD 24.90
- Y30S (p.Tyr30Ser), TOPMed rs904936999, gnomAD rs904936999
- P31H (p.Pro31His), cosmic curated COSV63563, Ensembl rs2153550438
- P31T (p.Pro31Thr), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, Variant assessed as somatic; moderate impact.
- D32E (p.Asp32Glu), 1000Genomes rs11575290, ESP rs11575290, ExAC rs11575290, TOPMed rs11575290, REVEL 0.12, CADD 0.04, Benign
- D32Y (p.Asp32Tyr), rs2535521337, ClinGen CA367531994, ClinVar RCV002825388, Uncertain significance
- V33L (p.Val33Leu), ExAC rs200593672, TOPMed rs200593672, gnomAD rs200593672, REVEL 0.29, CADD 22.80
- V33M (p.Val33Met), cosmic curated COSV10817, ExAC rs200593672, TOPMed rs200593672, gnomAD rs200593672, REVEL 0.27, CADD 24.90
- P35A (p.Pro35Ala), rs762044255, ClinGen CA4262502, ClinVar RCV003271759, ExAC rs762044255, AlphaMissense 0.82, MetaLR 0.72, Uncertain significance
- P35S (p.Pro35Ser), ExAC rs762044255, TOPMed rs762044255, gnomAD rs762044255, REVEL 0.72, AlphaMissense 0.82, Uncertain significance
- G36R (p.Gly36Arg), cosmic curated COSV63565, ExAC rs768464697, TOPMed rs768464697, gnomAD rs768464697, REVEL 0.65, CADD 26.60
- G36W (p.Gly36Trp), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, NCI-TCGA Cosmic COSV6356, Variant assessed as somatic; moderate impact.
- Y37H (p.Tyr37His), cosmic curated COSV63563
- Y37S (p.Tyr37Ser), Ensembl rs1585269379
- L38M (p.Leu38Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L38P (p.Leu38Pro), rs1279233360, gnomAD rs1279233360, REVEL 0.87, CADD 29.20, Variant assessed as somatic; moderate impact.
- R39P (p.Arg39Pro), rs376647978, ClinGen CA158234569, ClinVar RCV001316040, ESP rs376647978, REVEL 0.64, CADD 26.90, Likely pathogenic
- R39Q (p.Arg39Gln), rs376647978, ClinGen CA4262496, ClinVar RCV001967972, ESP rs376647978, REVEL 0.29, CADD 24.20, Likely pathogenic
- R39W (p.Arg39Trp), rs151088825, ClinGen CA4262498, cosmic curated COSV63567, ClinVar RCV000479694, REVEL 0.42, CADD 28.40, Likely benign
- P40L (p.Pro40Leu), rs778431076, ClinGen CA4262495, cosmic curated COSV63565, ClinVar RCV001341835, REVEL 0.17, CADD 23.00, Uncertain significance
- P40Q (p.Pro40Gln), ExAC rs778431076, TOPMed rs778431076, gnomAD rs778431076, Uncertain significance
- L41M (p.Leu41Met), rs748932346, ClinGen CA4262493, ClinVar RCV000223965, ClinVar RCV000692942, REVEL 0.25, CADD 23.20, Uncertain significance
- P43L (p.Pro43Leu), NCI-TCGA Cosmic COSV6356, cosmic curated COSV63567, Variant assessed as somatic; moderate impact.
- P43R (p.Pro43Arg), rs2044719409, ClinGen CA367531839, ClinVar RCV001212124, Ensembl rs2044719409, AlphaMissense 0.47, MetaLR 0.37, Uncertain significance
- P43T (p.Pro43Thr), TOPMed rs2044719647, gnomAD rs2044719647, REVEL 0.39, CADD 24.50
- A44V (p.Ala44Val), cosmic curated COSV10591, TOPMed rs2044719145, gnomAD rs2044719145, REVEL 0.07, CADD 8.09
- A45S (p.Ala45Ser), ExAC rs755313812, TOPMed rs755313812, gnomAD rs755313812, Uncertain significance
- A45T (p.Ala45Thr), rs755313812, ClinGen CA4262490, NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, REVEL 0.06, CADD 0.00, Likely benign
- A45V (p.Ala45Val), rs2044718776, ClinGen CA367531809, cosmic curated COSV63564, ClinVar RCV001298767, REVEL 0.09, CADD 13.90, Uncertain significance
- A46V (p.Ala46Val), Ensembl rs921331470
- P47A (p.Pro47Ala), rs2535520536, ClinVar RCV004595867, Uncertain significance, in AADCD
- P47H (p.Pro47His), rs780542462, ClinGen CA4262488, ClinVar RCV003337943, UniProt VAR 046137, REVEL 0.68, CADD 25.30, Pathogenic, in AADCD
- P47L (p.Pro47Leu), ExAC rs780542462, TOPMed rs780542462, gnomAD rs780542462, Pathogenic, in AADCD
- P47S (p.Pro47Ser), cosmic curated COSV63564
- P47T (p.Pro47Thr), rs2535520536, ClinGen CA367531779, ClinVar RCV003033434, Uncertain significance, in AADCD
- E49Q (p.Glu49Gln), NCI-TCGA TCGA novel, REVEL 0.07, CADD 18.30, Variant assessed as somatic; moderate impact.
- P50A (p.Pro50Ala), ExAC rs750489818, gnomAD rs750489818
- P50R (p.Pro50Arg), Ensembl rs2153550408
- P50S (p.Pro50Ser), ExAC rs750489818, gnomAD rs750489818, REVEL 0.27, CADD 22.40
- P50T (p.Pro50Thr), cosmic curated COSV63563
- D51G (p.Asp51Gly), ExAC rs765316768, TOPMed rs765316768, gnomAD rs765316768
- D51N (p.Asp51Asn), rs2153550405, ClinGen CA367531660, ClinVar RCV001866296, Ensembl rs2153550405, AlphaMissense 0.18, MetaLR 0.15, Uncertain significance
- D51V (p.Asp51Val), ExAC rs765316768, TOPMed rs765316768, gnomAD rs765316768, REVEL 0.24, CADD 23.60
- D51Y (p.Asp51Tyr), cosmic curated COSV63565
- T52A (p.Thr52Ala), TOPMed rs1284035532, gnomAD rs1284035532, REVEL 0.02, CADD 3.95
- T52M (p.Thr52Met), rs371272735, cosmic curated COSV63566, ESP rs371272735, ExAC rs371272735, REVEL 0.11, CADD 16.80, Variant assessed as somatic; moderate impact.
- E54* (p.Glu54Ter), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, Variant assessed as somatic; high impact.
- E54K (p.Glu54Lys), ExAC rs760546215, gnomAD rs760546215, REVEL 0.16, CADD 18.90
- I56N (p.Ile56Asn), cosmic curated COSV63566
- I56V (p.Ile56Val), gnomAD rs1245414893, REVEL 0.04, CADD 10.60
- I57N (p.Ile57Asn), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, Variant assessed as somatic; moderate impact.
- I57V (p.Ile57Val), rs2153550391, ClinGen CA367531503, ClinVar RCV001919831, Ensembl rs2153550391, REVEL 0.08, CADD 7.38, Uncertain significance
- N58K (p.Asn58Lys), 1000Genomes rs200233157, ExAC rs200233157, TOPMed rs200233157, gnomAD rs200233157, REVEL 0.04, CADD 0.00, Likely benign
- D59E (p.Asp59Glu), cosmic curated COSV63568
- D59H (p.Asp59His), rs931702374, ClinGen CA367531461, ClinVar RCV002045200, TOPMed rs931702374, AlphaMissense 0.92, MetaLR 0.46, Pathogenic
- D59N (p.Asp59Asn), rs931702374, ClinGen CA158234563, NCI-TCGA Cosmic COSV6356, cosmic curated COSV63563, REVEL 0.43, AlphaMissense 0.92, Pathogenic
- D59V (p.Asp59Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D59Y (p.Asp59Tyr), rs931702374, ClinGen CA367531458, NCI-TCGA Cosmic COSV6356, ClinVar RCV003994964, AlphaMissense 0.92, MetaLR 0.46, Uncertain significance
- V60A (p.Val60Ala), rs770446305, ClinGen CA4262476, ClinVar RCV003990558, ExAC rs770446305, REVEL 0.30, CADD 23.70, Uncertain significance
- V60D (p.Val60Asp), ExAC rs770446305, TOPMed rs770446305, gnomAD rs770446305, REVEL 0.37, CADD 24.40, Uncertain significance
- V60I (p.Val60Ile), rs142925706, ClinGen CA4262477, cosmic curated COSV63567, ClinVar RCV000697255, REVEL 0.03, CADD 0.18, Uncertain significance
- E61D (p.Glu61Asp), rs11575292, ClinGen CA4262475, cosmic curated COSV99058, ClinVar RCV000224139, REVEL 0.07, CADD 16.90, Benign
- K62N (p.Lys62Asn), ExAC rs777469245, gnomAD rs777469245, REVEL 0.05, CADD 20.50
- I63L (p.Ile63Leu), rs769369623, ClinGen CA367531341, ClinVar RCV001313387, ExAC rs769369623, REVEL 0.04, CADD 18.90, Uncertain significance
- I63V (p.Ile63Val), rs769369623, ClinGen CA4262473, ClinVar RCV003027666, ExAC rs769369623, REVEL 0.04, CADD 19.80, Uncertain significance
- I64T (p.Ile64Thr), TOPMed rs2044716414, REVEL 0.68, CADD 26.10
- I64V (p.Ile64Val), TOPMed rs2044716490
- M65I (p.Met65Ile), rs1331036250, ClinGen CA367531269, ClinVar RCV003115657, TOPMed rs1331036250, REVEL 0.45, CADD 24.50, Uncertain significance
- M65K (p.Met65Lys), TOPMed rs951364390, REVEL 0.69, CADD 25.90
- P66H (p.Pro66His), cosmic curated COSV10744
- P66R (p.Pro66Arg), Ensembl rs1563044251, REVEL 0.63, CADD 25.80
- P66S (p.Pro66Ser), ExAC rs747387124, gnomAD rs747387124, REVEL 0.36, CADD 22.70
- G67E (p.Gly67Glu), rs147802058, ClinGen CA4262471, ClinVar RCV002017001, ESP rs147802058, REVEL 0.66, CADD 26.50, Uncertain significance
- G67R (p.Gly67Arg), Ensembl rs2044716020
- G67V (p.Gly67Val), NCI-TCGA TCGA novel, REVEL 0.70, CADD 27.10, Variant assessed as somatic; moderate impact.
- T69K (p.Thr69Lys), ExAC rs777956037, TOPMed rs777956037, gnomAD rs777956037, Uncertain significance
- T69M (p.Thr69Met), rs777956037, ClinGen CA4262447, NCI-TCGA Cosmic COSV6356, cosmic curated COSV63565, REVEL 0.83, CADD 27.20, Pathogenic
- H70L (p.His70Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H70Q (p.His70Gln), Ensembl rs2044569200
- W71L (p.Trp71Leu), rs1220708031, ClinGen CA367529957, cosmic curated COSV63566, ClinVar RCV001910542, AlphaMissense 0.97, MetaLR 0.38, Uncertain significance
- W71S (p.Trp71Ser), rs1220708031, ClinGen CA367529959, ClinVar RCV003021046, TOPMed rs1220708031, REVEL 0.80, AlphaMissense 0.97, Uncertain significance
- H72P (p.His72Pro), Ensembl rs1585260435
- H72Q (p.His72Gln), ExAC rs752936791, TOPMed rs752936791, gnomAD rs752936791, Likely benign
- H72Y (p.His72Tyr), gnomAD rs1345511089, REVEL 0.74, CADD 25.20
- S73G (p.Ser73Gly), ExAC rs767470253, gnomAD rs767470253, REVEL 0.48, CADD 27.30
- S73N (p.Ser73Asn), cosmic curated COSV63567, REVEL 0.34, CADD 22.40
- P74A (p.Pro74Ala), rs1414196907, ClinGen CA367529913, ClinVar RCV003066025, AlphaMissense 0.75, MetaLR 0.54, Uncertain significance
- P74L (p.Pro74Leu), rs1045841207, ClinGen CA158234094, ClinVar RCV001945427, TOPMed rs1045841207, REVEL 0.76, CADD 31.00, Uncertain significance
- P74R (p.Pro74Arg), TOPMed rs1045841207, gnomAD rs1045841207, REVEL 0.81, CADD 29.60, Uncertain significance
- P74T (p.Pro74Thr), rs1414196907, ClinGen CA367529915, ClinVar RCV002681211, TOPMed rs1414196907, REVEL 0.78, AlphaMissense 0.75, Uncertain significance
- Y75F (p.Tyr75Phe), rs754791023, ClinGen CA4262443, ClinVar RCV001985356, ExAC rs754791023, REVEL 0.06, CADD 19.00, Uncertain significance
- F77L (p.Phe77Leu), rs751519679, ClinGen CA367529858, ClinVar RCV001967473, ExAC rs751519679, REVEL 0.20, CADD 27.30, Likely benign
- A78S (p.Ala78Ser), rs140276979, ClinGen CA4262441, ClinVar RCV001221294, ClinVar RCV002562523, REVEL 0.44, CADD 26.00, Uncertain significance
- A78T (p.Ala78Thr), rs140276979, ClinGen CA158234093, cosmic curated COSV63565, ClinVar RCV001993466, REVEL 0.65, CADD 27.20, Uncertain significance
- Y79C (p.Tyr79Cys), TOPMed rs1281099728, gnomAD rs1281099728, REVEL 0.92, CADD 31.00
- Y79F (p.Tyr79Phe), NCI-TCGA Cosmic COSV6356, cosmic curated COSV63565, Variant assessed as somatic; moderate impact.
- F80C (p.Phe80Cys), rs2535490754, ClinGen CA367529814, ClinVar RCV003043481, Uncertain significance
- F80L (p.Phe80Leu), rs2535490774, ClinGen CA367529821, ClinVar RCV002971888, REVEL 0.70, CADD 29.60, Uncertain significance
- P81L (p.Pro81Leu), rs935725316, ClinGen CA158234091, ClinVar RCV002223079, Ensembl rs935725316, REVEL 0.89, CADD 29.30, Pathogenic
- P81S (p.Pro81Ser), NCI-TCGA Cosmic COSV6356, cosmic curated COSV63567, REVEL 0.65, CADD 26.80, Variant assessed as somatic; moderate impact.
- T82P (p.Thr82Pro), Ensembl rs1554433873, REVEL 0.18, CADD 22.80
- A83T (p.Ala83Thr), gnomAD rs1176165039, REVEL 0.24, CADD 23.70
- S84G (p.Ser84Gly), rs772739889, ClinGen CA4262437, ClinVar RCV002788504, ExAC rs772739889, REVEL 0.06, CADD 23.40, Uncertain significance
- S84N (p.Ser84Asn), rs2044566817, ClinGen CA367529754, ClinVar RCV001929857, ClinVar RCV005923908, REVEL 0.07, CADD 16.00, Uncertain significance
- S84R (p.Ser84Arg), cosmic curated COSV63566
- S85* (p.Ser85Ter), rs764694805, ClinGen CA367529737, ClinVar RCV002903483, CADD 41.00, Pathogenic
- S85L (p.Ser85Leu), rs764694805, ExAC rs764694805, TOPMed rs764694805, gnomAD rs764694805, REVEL 0.73, CADD 29.70, Variant assessed as somatic; moderate impact.
- S85P (p.Ser85Pro), gnomAD rs1414536209, REVEL 0.78, CADD 28.20
- Y86H (p.Tyr86His), cosmic curated COSV63566
- P87L (p.Pro87Leu), rs746244631, ClinGen CA4262432, cosmic curated COSV63564, ClinVar RCV001250058, REVEL 0.91, CADD 27.50, Pathogenic
- A88T (p.Ala88Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A88V (p.Ala88Val), cosmic curated COSV63564
- M89I (p.Met89Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M89T (p.Met89Thr), rs2535490464, ClinGen CA367529676, ClinVar RCV003018873, Uncertain significance
- M89V (p.Met89Val), rs886062376, ClinGen CA10626216, cosmic curated COSV63563, ClinVar RCV000339933, REVEL 0.08, CADD 15.00, Uncertain significance
- L90F (p.Leu90Phe), cosmic curated COSV63565
- L90V (p.Leu90Val), rs771493217, ClinGen CA4262430, ClinVar RCV001870352, ExAC rs771493217, REVEL 0.18, CADD 16.10, Uncertain significance
- A91E (p.Ala91Glu), cosmic curated COSV63564, ExAC rs137853211, TOPMed rs137853211, gnomAD rs137853211, REVEL 0.39, CADD 24.10, Pathogenic, in AADCD
- A91V (p.Ala91Val), rs137853211, ClinGen CA127450, ClinVar RCV000019391, ClinVar RCV003238725, REVEL 0.35, CADD 24.30, Pathogenic, in AADCD
- D92H (p.Asp92His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D92N (p.Asp92Asn), cosmic curated COSV10591
- M93V (p.Met93Val), rs1190938278, NCI-TCGA Cosmic COSV6356, cosmic curated COSV63563, TOPMed rs1190938278, REVEL 0.36, CADD 23.10, Variant assessed as somatic; moderate impact.
- L94M (p.Leu94Met), gnomAD rs1222688907, REVEL 0.46, CADD 25.20
- C95* (p.Cys95Ter), rs748439275, ClinGen CA4262428, ClinVar RCV001780918, ExAC rs748439275, CADD 25.30, Likely pathogenic
- C95G (p.Cys95Gly), Ensembl rs2044565345
- G96K (p.Gly96Lys), cosmic curated COSV10466
- G96R (p.Gly96Arg), rs1285477390, ClinGen CA367529579, NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, REVEL 0.34, AlphaMissense 0.94, Pathogenic
- G96V (p.Gly96Val), NCI-TCGA TCGA novel, Ensembl rs2153549118, Variant assessed as somatic; moderate impact.
- G96W (p.Gly96Trp), rs1285477390, ClinGen CA367529575, ClinVar RCV003994965, AlphaMissense 0.94, MetaLR 0.30, Uncertain significance
Public DDC analysis runs
- DDC analysis run — DDC (903 variants) — completed 2026-08-18