PCCA (P05165) variants and mutations
PCCA (also known as P05165) is a human protein-coding gene encoding a propionyl-CoA carboxylase alpha chain, mitochondrial protein. The alpha subunit of mitochondrial propionyl-CoA carboxylase, which processes propionyl-CoA from certain amino acids and fatty acids. Variants cause propionic acidemia. This analysis covers 1,134 PCCA variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes propionic acidemia, hereditary disease, and dilated cardiomyopathy. Example PCCA variants include M1K, M1T, and M1V.
Variant analysis overview
- Gene: PCCA
- Protein: P05165
- UniProt accession: P05165
- Organism: Homo sapiens
- Variants analyzed: 1134
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 1,027 unspecified-consequence records; 108 missense variants; 13 frameshift variants; 41 synonymous variants; 4 stop-gained variants; 1 in-frame deletions; 2 splice-region variants; 1 substitution
- Prediction scores: 1,095 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: propionic acidemia, hereditary disease, dilated cardiomyopathy, neurodegenerative disease, pontocerebellar hypoplasia type 2D, male reproductive organ cancer, mathematical ability, risk-taking behaviour, substance abuse, attention deficit-hyperactivity disorder, refractive error, Headache.
Protein structure and variant hotspots
- Protein features: 3 domains; 13 binding sites; 18 post-translational modification sites.
- Structural context: 697 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.
Diseases linked to PCCA
Notable PCCA variants
Examples include M1K, M1T, M1V, A2P, A2V, A2T, A2G, A2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs372093520, ClinGen CA388692577, ClinVar RCV000790481, ESM-1b 1.00, AlphaMissense 0.45, Pathogenic, Propionic acidemia
- M1T (p.Met1Thr), rs372093520, ClinGen CA7033055, ClinVar RCV000673344, ClinVar RCV003317333, ESM-1b 1.00, AlphaMissense 0.30, Uncertain significance, Propionic acidemia
- M1V (p.Met1Val), rs976571199, ClinGen CA255963362, ClinVar RCV002595887, ESM-1b 1.00, AlphaMissense 0.10, Uncertain significance, Propionic acidemia
- A2P (p.Ala2Pro), rs760710987, ClinGen CA7033056, ClinVar RCV002600030, ClinVar RCV002615746, REVEL 0.52, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Propionic acidemia
- A2V (p.Ala2Val), Ensembl rs866921443, REVEL 0.48, ESM-1b 0.00
- A2T (p.Ala2Thr), gnomAD 13-100089124-G-A, REVEL 0.46, ESM-1b 0.00
- A2G (p.Ala2Gly), gnomAD 13-100089124-GC-G, CADD 24.70
- A2S (p.Ala2Ser), gnomAD 13-100089124-G-T, REVEL 0.39, ESM-1b 0.00
- A2E (p.Ala2Glu), gnomAD 13-100089125-C-A, REVEL 0.52, ESM-1b 0.03
- A2A (p.Ala2Ala), gnomAD 13-100089126-G-C, CADD 9.83
- G3A (p.Gly3Ala), gnomAD rs1405537130, REVEL 0.47, ESM-1b 0.00
- G3W (p.Gly3Trp), gnomAD 13-100089127-G-T, REVEL 0.57, ESM-1b 0.00
- G3R (p.Gly3Arg), gnomAD 13-100089127-G-A, REVEL 0.54, ESM-1b 0.00
- G3E (p.Gly3Glu), gnomAD 13-100089128-G-A, REVEL 0.53, ESM-1b 0.06
- G3V (p.Gly3Val), gnomAD 13-100089128-G-T, REVEL 0.63, ESM-1b 0.00
- G3G (p.Gly3Gly), rs547209141, gnomAD 13-100089129-G-C, CADD 3.56
- F4L (p.Phe4Leu), rs759257021, ClinGen CA388692598, ClinVar RCV002043692, ExAC rs759257021, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- F4V (p.Phe4Val), cosmic curated COSV66196, ExAC rs753799002, gnomAD rs753799002, REVEL 0.16, ESM-1b 0.00
- F4S (p.Phe4Ser), gnomAD 13-100089125-CG-C, CADD 23.30
- F4F (p.Phe4Phe), rs759257021, gnomAD 13-100089132-C-T, CADD 4.51
- W5* (p.Trp5Ter), rs11539554, ClinGen CA255963365, ClinVar RCV000674821, gnomAD rs11539554, CADD 37.00, Uncertain significance
- W5C (p.Trp5Cys), gnomAD rs11539554, REVEL 0.38, ESM-1b 0.00, Uncertain significance
- W5R (p.Trp5Arg), gnomAD 13-100089133-T-C, REVEL 0.54, ESM-1b 0.00
- W5S (p.Trp5Ser), gnomAD 13-100089134-G-C, REVEL 0.54, ESM-1b 0.00
- W5L (p.Trp5Leu), gnomAD 13-100089134-G-T, REVEL 0.47, ESM-1b 0.00
- V6A (p.Val6Ala), rs1431176397, ClinGen CA388692610, ClinVar RCV002850205, TOPMed rs1431176397, REVEL 0.27, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- V6F (p.Val6Phe), 1000Genomes rs568542767, ExAC rs568542767, TOPMed rs568542767, gnomAD rs568542767, REVEL 0.56, ESM-1b 0.00
- V6G (p.Val6Gly), TOPMed rs1431176397, gnomAD rs1431176397, REVEL 0.58, ESM-1b 0.00, Uncertain significance
- V6I (p.Val6Ile), 1000Genomes rs568542767, ExAC rs568542767, TOPMed rs568542767, gnomAD rs568542767, REVEL 0.25, ESM-1b 0.00
- V6S (p.Val6Ser), gnomAD 13-100089133-TG-T, CADD 24.60
- V6L (p.Val6Leu), gnomAD 13-100089136-G-C, REVEL 0.28, ESM-1b 0.00
- V6D (p.Val6Asp), gnomAD 13-100089137-T-A, REVEL 0.58, ESM-1b 0.25
- V6V (p.Val6Val), gnomAD 13-100089138-C-A, CADD 0.53
- G7A (p.Gly7Ala), rs1283043748, ClinGen CA388692616, ClinVar RCV002806745, gnomAD rs1283043748, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- G7R (p.Gly7Arg), rs1224457663, TOPMed rs1224457663, gnomAD rs1224457663, ClinGen CA388692613, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- G7W (p.Gly7Trp), gnomAD 13-100089139-G-T, REVEL 0.45, ESM-1b 0.00
- G7V (p.Gly7Val), gnomAD 13-100089140-G-T, REVEL 0.39, ESM-1b 0.00
- G7E (p.Gly7Glu), gnomAD 13-100089140-G-A, REVEL 0.48, ESM-1b 0.00
- G7G (p.Gly7Gly), rs1410571475, gnomAD 13-100089141-G-A, CADD 5.51
- T8R (p.Thr8Arg), TOPMed rs2046026105, gnomAD rs2046026105, REVEL 0.22, ESM-1b 0.00
- T8Q (p.Thr8Gln), rs1593996210, gnomAD 13-100089138-CG-C, CADD 15.90
- T8S (p.Thr8Ser), gnomAD 13-100089142-A-T, REVEL 0.16, ESM-1b 0.00
- T8A (p.Thr8Ala), gnomAD 13-100089142-A-G, REVEL 0.18, ESM-1b 0.00
- T8K (p.Thr8Lys), gnomAD 13-100089143-C-A, REVEL 0.22, ESM-1b 0.00
- T8I (p.Thr8Ile), gnomAD 13-100089143-C-T, REVEL 0.20, ESM-1b 0.00
- T8T (p.Thr8Thr), rs117397004, gnomAD 13-100089144-A-G, CADD 1.53
- A9V (p.Ala9Val), TOPMed rs1206164400, gnomAD rs1206164400, REVEL 0.15, ESM-1b 0.00
- A9T (p.Ala9Thr), gnomAD 13-100089145-G-A, REVEL 0.19, ESM-1b 0.00
- A9S (p.Ala9Ser), gnomAD 13-100089145-G-T, REVEL 0.19, ESM-1b 0.00
- A9P (p.Ala9Pro), gnomAD 13-100089145-G-C, REVEL 0.28, ESM-1b 0.00
- A9E (p.Ala9Glu), gnomAD 13-100089146-C-A, REVEL 0.22, ESM-1b 0.00
- A9A (p.Ala9Ala), gnomAD 13-100089147-A-G, CADD 2.66
- P10A (p.Pro10Ala), Ensembl rs868782658, ESM-1b 0.00, AlphaMissense 0.05
- P10L (p.Pro10Leu), rs1251572354, ClinGen CA388692634, ClinVar RCV001997235, NCI-TCGA TCGA novel, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- P10Q (p.Pro10Gln), rs1251572354, ClinGen CA388692632, ClinVar RCV001914686, gnomAD rs1251572354, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- P10T (p.Pro10Thr), Ensembl rs868782658, REVEL 0.19, ESM-1b 0.00
- P10S (p.Pro10Ser), gnomAD 13-100089148-C-T, REVEL 0.19, ESM-1b 0.00
- P10R (p.Pro10Arg), gnomAD 13-100089149-C-G, REVEL 0.22, ESM-1b 0.00
- P10P (p.Pro10Pro), rs1206173421, gnomAD 13-100089150-G-T, CADD 2.29
- L11M (p.Leu11Met), Ensembl rs2152189477, REVEL 0.28, ESM-1b 0.00, Likely benign
- L11Q (p.Leu11Gln), rs1462181349, ClinGen CA388692639, ClinVar RCV002650797, REVEL 0.39, ESM-1b 0.05, Uncertain significance, Propionic acidemia
- L11R (p.Leu11Arg), TOPMed rs1462181349, gnomAD rs1462181349, REVEL 0.44, ESM-1b 0.00, Uncertain significance
- L11L (p.Leu11Leu), gnomAD 13-100089151-C-T, CADD 5.42
- L11V (p.Leu11Val), gnomAD 13-100089151-C-G, REVEL 0.32, ESM-1b 0.00
- L11P (p.Leu11Pro), gnomAD 13-100089152-T-C, REVEL 0.50, ESM-1b 0.00
- V12L (p.Val12Leu), Ensembl rs1208475436, ESM-1b 0.00, AlphaMissense 0.09
- V12S (p.Val12Ser), gnomAD 13-100089152-TG-T, CADD 20.00
- V12I (p.Val12Ile), gnomAD 13-100089154-G-A, REVEL 0.10, ESM-1b 0.00
- V12F (p.Val12Phe), gnomAD 13-100089154-G-T, REVEL 0.17, ESM-1b 0.00
- V12V (p.Val12Val), rs375516917, gnomAD 13-100089156-C-T, CADD 4.22
- A13T (p.Ala13Thr), gnomAD 13-100089157-G-A, REVEL 0.14, ESM-1b 0.00
- A13S (p.Ala13Ser), gnomAD 13-100089157-G-T, REVEL 0.13, ESM-1b 0.00
- A13D (p.Ala13Asp), gnomAD 13-100089158-C-A, REVEL 0.37, ESM-1b 0.99
- A13V (p.Ala13Val), gnomAD 13-100089158-C-T, REVEL 0.28, ESM-1b 0.00
- A13A (p.Ala13Ala), gnomAD 13-100089159-T-C, CADD 8.05
- A14T (p.Ala14Thr), Ensembl rs2046029191, REVEL 0.16, ESM-1b 0.00
- A14P (p.Ala14Pro), gnomAD 13-100089160-G-C, REVEL 0.41, ESM-1b 0.00
- A14S (p.Ala14Ser), gnomAD 13-100089160-G-T, REVEL 0.15, ESM-1b 0.00
- A14V (p.Ala14Val), gnomAD 13-100089161-C-T, REVEL 0.21, ESM-1b 0.00
- A14D (p.Ala14Asp), gnomAD 13-100089161-C-A, REVEL 0.33, ESM-1b 0.97
- A14A (p.Ala14Ala), rs200714802, gnomAD 13-100089162-C-A, CADD 4.21
- G15* (p.Gly15Ter), rs1593996636, ClinGen CA388692660, ClinVar RCV000790482, Ensembl rs1593996636, CADD 34.00, Pathogenic
- G15R (p.Gly15Arg), gnomAD 13-100089163-G-A, REVEL 0.23, ESM-1b 0.00
- G15E (p.Gly15Glu), gnomAD 13-100089164-G-A, REVEL 0.25, ESM-1b 0.00
- G15V (p.Gly15Val), gnomAD 13-100089164-G-T, REVEL 0.44, ESM-1b 0.00
- G15G (p.Gly15Gly), gnomAD 13-100089165-A-T, CADD 9.01
- R16L (p.Arg16Leu), ExAC rs749734283, gnomAD rs749734283, REVEL 0.41, ESM-1b 0.00
- R16W (p.Arg16Trp), TOPMed rs1374827963, gnomAD rs1374827963, REVEL 0.46, ESM-1b 0.00
- R16Q (p.Arg16Gln), rs999936193, gnomAD 13-100089139-G-GG, CADD 22.20
- R16R (p.Arg16Arg), gnomAD 13-100089166-C-A, CADD 9.19
- R16P (p.Arg16Pro), gnomAD 13-100089167-G-C, REVEL 0.55, ESM-1b 0.00
- R17H (p.Arg17His), rs768914819, ClinGen CA388692671, ClinVar RCV001967256, ExAC rs768914819, REVEL 0.19, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- R17L (p.Arg17Leu), ExAC rs768914819, TOPMed rs768914819, gnomAD rs768914819, REVEL 0.28, ESM-1b 0.00, Uncertain significance
- R17C (p.Arg17Cys), gnomAD 13-100089169-C-T, REVEL 0.39, ESM-1b 0.00
- R17S (p.Arg17Ser), gnomAD 13-100089169-C-A, REVEL 0.34, ESM-1b 0.00
- R17G (p.Arg17Gly), gnomAD 13-100089169-C-G, REVEL 0.38, ESM-1b 0.00
- R17R (p.Arg17Arg), gnomAD 13-100089171-T-C, CADD 7.46
- G18E (p.Gly18Glu), gnomAD rs1172760709, REVEL 0.16, ESM-1b 0.00
- G18R (p.Gly18Arg), rs779286461, ExAC rs779286461, TOPMed rs779286461, gnomAD rs779286461, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- G18W (p.Gly18Trp), gnomAD 13-100089172-G-T, REVEL 0.21, ESM-1b 0.00
- G18V (p.Gly18Val), gnomAD 13-100089173-G-T, REVEL 0.17, ESM-1b 0.00
- G18G (p.Gly18Gly), gnomAD 13-100089174-G-T, CADD 8.98
- R19L (p.Arg19Leu), 1000Genomes rs2152189747, REVEL 0.42, ESM-1b 0.00
- R19W (p.Arg19Trp), rs748401260, ExAC rs748401260, gnomAD rs748401260, REVEL 0.38, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- R19G (p.Arg19Gly), gnomAD 13-100089171-TG-T, CADD 22.10
- R19R (p.Arg19Arg), gnomAD 13-100089175-C-A, CADD 9.84
- R19Q (p.Arg19Gln), gnomAD 13-100089176-G-A, REVEL 0.34, ESM-1b 0.00
- W20R (p.Trp20Arg), rs1302125451, ClinGen CA388692683, ClinVar RCV002026887, TOPMed rs1302125451, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- W20* (p.Trp20Ter), gnomAD 13-100089179-G-A, CADD 34.00
- W20L (p.Trp20Leu), gnomAD 13-100089179-G-T, REVEL 0.20, ESM-1b 0.00
- W20C (p.Trp20Cys), gnomAD 13-100089180-G-C, REVEL 0.16, ESM-1b 0.00
- P21L (p.Pro21Leu), rs1367928921, ClinGen CA388692694, ClinVar RCV001909646, TOPMed rs1367928921, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- P21S (p.Pro21Ser), rs369743452, ClinGen CA7033071, ClinVar RCV001581500, ClinVar RCV001827513, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Propionic acidemia; Inborn genetic diseases; not provided
- P21T (p.Pro21Thr), gnomAD 13-100089181-C-A, REVEL 0.14, ESM-1b 0.00
- P21Q (p.Pro21Gln), gnomAD 13-100089182-C-A, REVEL 0.14, ESM-1b 0.00
- P21P (p.Pro21Pro), gnomAD 13-100089183-G-T, CADD 6.62
- P22L (p.Pro22Leu), rs773397570, ClinGen CA7033072, ClinVar RCV001912875, ExAC rs773397570, REVEL 0.25, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- P22S (p.Pro22Ser), rs1406102005, ClinGen CA388692698, ClinVar RCV003063228, gnomAD rs1406102005, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- P22T (p.Pro22Thr), gnomAD 13-100089184-C-A, REVEL 0.15, ESM-1b 0.00
- P22Q (p.Pro22Gln), gnomAD 13-100089185-C-A, REVEL 0.22, ESM-1b 0.00
- P22P (p.Pro22Pro), rs760798946, gnomAD 13-100089186-G-A, CADD 12.10
- Q23* (p.Gln23Ter), TOPMed rs1418687702, gnomAD rs1418687702, CADD 35.00, Likely pathogenic
- Q23H (p.Gln23His), Ensembl rs1593997093, REVEL 0.20, ESM-1b 0.00, Likely benign
- Q23P (p.Gln23Pro), rs1566436392, ClinGen CA388692704, ClinVar RCV001929970, TOPMed rs1566436392, REVEL 0.32, ESM-1b 0.00, Uncertain significance, PCCA-related disorder; Propionic acidemia
- Q23S (p.Gln23Ser), gnomAD 13-100089185-CG-C, CADD 23.20
- Q23K (p.Gln23Lys), gnomAD 13-100089187-C-A, REVEL 0.25, ESM-1b 0.00
- Q23E (p.Gln23Glu), gnomAD 13-100089187-C-G, REVEL 0.24, ESM-1b 0.00
- Q23R (p.Gln23Arg), gnomAD 13-100089188-A-G, REVEL 0.25, ESM-1b 0.00
- Q23Q (p.Gln23Gln), rs1593997093, gnomAD 13-100089189-G-A, CADD 9.88
- Q24del (p.Gln24del), gnomAD 13-100089185-CGCA, CADD 14.90
- Q24K (p.Gln24Lys), gnomAD 13-100089190-C-A, REVEL 0.25, ESM-1b 0.00
- Q24* (p.Gln24Ter), gnomAD 13-100089190-C-T, CADD 35.00
- Q24R (p.Gln24Arg), gnomAD 13-100089191-A-G, REVEL 0.18, ESM-1b 0.00
- Q24Q (p.Gln24Gln), rs2152189926, gnomAD 13-100089192-G-A, CADD 6.86
- Q24H (p.Gln24His), gnomAD 13-100089192-G-T, REVEL 0.24, ESM-1b 0.00
- L25M (p.Leu25Met), gnomAD 13-100089193-C-A, REVEL 0.25, ESM-1b 0.00
- L25L (p.Leu25Leu), rs1216741491, gnomAD 13-100089193-C-T, CADD 11.40
- L25P (p.Leu25Pro), gnomAD 13-100089194-T-C, REVEL 0.58, ESM-1b 0.00
- M26I (p.Met26Ile), gnomAD rs1306596928, REVEL 0.27, ESM-1b 0.00
- M26T (p.Met26Thr), rs2541952464, ClinGen CA388692726, ClinVar RCV003003165, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- L27L (p.Leu27Leu), rs2152189967, gnomAD 13-100089199-C-T, CADD 10.60
- L27V (p.Leu27Val), gnomAD 13-100089199-C-G, REVEL 0.28, ESM-1b 0.00
- L27M (p.Leu27Met), gnomAD 13-100089199-C-A, REVEL 0.26, ESM-1b 0.00
- L27Q (p.Leu27Gln), gnomAD 13-100089200-T-A, REVEL 0.27, ESM-1b 0.00
- L27P (p.Leu27Pro), gnomAD 13-100089200-T-C, REVEL 0.38, ESM-1b 0.00
- S28C (p.Ser28Cys), gnomAD rs1224532097, REVEL 0.34, ESM-1b 0.00
- S28G (p.Ser28Gly), gnomAD 13-100089202-A-G, REVEL 0.24, ESM-1b 0.00
- S28N (p.Ser28Asn), gnomAD 13-100089203-G-A, REVEL 0.25, ESM-1b 0.00
- S28I (p.Ser28Ile), gnomAD 13-100089203-G-T, REVEL 0.30, ESM-1b 0.03
- S28R (p.Ser28Arg), gnomAD 13-100089204-C-A, REVEL 0.30, ESM-1b 0.00
- S28S (p.Ser28Ser), rs2046033793, gnomAD 13-100089204-C-T, CADD 14.20
- A29S (p.Ala29Ser), ExAC rs771037080, TOPMed rs771037080, gnomAD rs771037080, REVEL 0.21, ESM-1b 0.00
- A29R (p.Ala29Arg), rs1184927944, gnomAD 13-100089204-CG-C, CADD 23.80
- A29T (p.Ala29Thr), gnomAD 13-100089205-G-A, REVEL 0.23, ESM-1b 0.00
- A29G (p.Ala29Gly), gnomAD 13-100089206-C-G, REVEL 0.26, ESM-1b 0.00
- A29E (p.Ala29Glu), gnomAD 13-100089206-C-A, REVEL 0.55, ESM-1b 0.00
- A29V (p.Ala29Val), gnomAD 13-100089206-C-T, REVEL 0.26, ESM-1b 0.00
- A29A (p.Ala29Ala), gnomAD 13-100089207-G-A, CADD 9.87
- A30V (p.Ala30Val), TOPMed rs2046034551, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Propionic acidemia
- A30T (p.Ala30Thr), gnomAD 13-100089208-G-A, REVEL 0.28, ESM-1b 0.00
- A30S (p.Ala30Ser), gnomAD 13-100089208-G-T, REVEL 0.25, ESM-1b 0.00
- A30E (p.Ala30Glu), gnomAD 13-100089209-C-A, REVEL 0.64, ESM-1b 0.00
- A30A (p.Ala30Ala), rs776449255, gnomAD 13-100089210-G-T, CADD 13.00
- L31P (p.Leu31Pro), TOPMed rs1566436616, gnomAD rs1566436616, REVEL 0.36, ESM-1b 0.00
- L31R (p.Leu31Arg), TOPMed rs1566436616, gnomAD rs1566436616, REVEL 0.49, ESM-1b 0.00
- L31V (p.Leu31Val), gnomAD 13-100089211-C-G, REVEL 0.23, ESM-1b 0.00
- L31M (p.Leu31Met), gnomAD 13-100089211-C-A, REVEL 0.26, ESM-1b 0.00
- L31L (p.Leu31Leu), rs2152190063, gnomAD 13-100089211-C-T, CADD 14.30
- R32P (p.Arg32Pro), TOPMed rs1221651061, gnomAD rs1221651061, ESM-1b 0.00, AlphaMissense 0.14
- R32Q (p.Arg32Gln), TOPMed rs1221651061, gnomAD rs1221651061, REVEL 0.32, ESM-1b 0.00
- R32W (p.Arg32Trp), gnomAD 13-100089214-C-T, REVEL 0.32, ESM-1b 0.00
- R32R (p.Arg32Arg), rs2152190089, gnomAD 13-100089214-C-A, CADD 12.60
- R32G (p.Arg32Gly), gnomAD 13-100089214-C-G, REVEL 0.33, ESM-1b 0.00
- R32L (p.Arg32Leu), gnomAD 13-100089215-G-T, REVEL 0.36, ESM-1b 0.00
- T33N (p.Thr33Asn), rs1486710734, ClinGen CA388692770, ClinVar RCV003204041, TOPMed rs1486710734, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T33S (p.Thr33Ser), rs1266738147, ClinGen CA388692767, ClinVar RCV002252903, gnomAD rs1266738147, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, See cases
- T33A (p.Thr33Ala), gnomAD 13-100089217-A-G, REVEL 0.31, ESM-1b 0.00
- T33T (p.Thr33Thr), gnomAD 13-100089219-C-G, CADD 14.10
- L34E (p.Leu34Glu), gnomAD 13-100089219-CCT-, CADD 28.20
- L34L (p.Leu34Leu), rs1186911053, gnomAD 13-100089220-C-T, CADD 14.80
Public PCCA analysis runs
- PCCA analysis run — PCCA (1,134 variants) — completed 2026-10-09