RASA1 (Ras GTPase-activating protein 1) variants and mutations
RASA1 (also known as Ras GTPase-activating protein 1) is a human protein-coding gene encoding a ras GTPase-activating protein 1 protein. It accelerates hydrolysis of RAS-GTP and therefore limits RAS-MAPK signaling downstream of growth-factor receptors. Haploinsufficiency causes capillary malformation-arteriovenous malformation syndrome and related fast-flow vascular anomalies. This analysis covers 1,535 RASA1 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes capillary malformation-arteriovenous malformation 1, Capillary malformation - arteriovenous malformation, and capillary malformation-arteriovenous malformation syndrome. Example RASA1 variants include M1?, M2I, and A3T.
Variant analysis overview
- Gene: RASA1
- Protein: Ras GTPase-activating protein 1
- UniProt accession: P20936
- Organism: Homo sapiens
- Variants analyzed: 1535
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 1,256 unspecified-consequence records; 9 frameshift variants; 144 missense variants; 113 synonymous variants; 2 in-frame insertions; 9 in-frame deletions; 1 splice-region variants
- Prediction scores: 1,034 variants have prediction scores (67% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: capillary malformation-arteriovenous malformation 1, Capillary malformation - arteriovenous malformation, capillary malformation-arteriovenous malformation syndrome, angioosteohypertrophic syndrome, Abnormality of the cardiovascular system, vascular malformation, basal cell carcinoma, squamous cell lung carcinoma, neurodegenerative disease, arteriovenous hemangioma/malformation, capillary malformation, colorectal adenocarcinoma.
Protein structure and variant hotspots
- Protein features: 6 domains; 3 post-translational modification sites.
- Structural context: 656 variants have structural context.
- PTM context: 3 variants overlap post-translational modification sites.
- Experimental data: 61 protein positions have experimental scores. Source: RASA1 SH3 domain domainome 1.0.
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 RASA1 variants
Examples include M1?, M2I, A3T, A3V, A3E, A3A, A4G, A4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs2531001859, ClinGen CA360416577, NCI-TCGA Cosmic COSV9916, ClinVar RCV003760684, Uncertain significance
- M2I (p.Met2Ile), gnomAD 5-87268457-G-T, REVEL 0.36, CADD 23.00
- A3T (p.Ala3Thr), gnomAD 5-87268458-G-A, REVEL 0.30, CADD 26.90
- A3V (p.Ala3Val), gnomAD 5-87268459-C-T, REVEL 0.34, CADD 26.50
- A3E (p.Ala3Glu), gnomAD 5-87268459-C-A, REVEL 0.39, CADD 26.10
- A3A (p.Ala3Ala), gnomAD 5-87268460-G-A, CADD 14.40
- A4G (p.Ala4Gly), TOPMed rs1753662372
- A4T (p.Ala4Thr), ExAC rs781109820, gnomAD rs781109820, REVEL 0.30, CADD 23.10, Uncertain significance, Cardiovascular phenotype
- A4V (p.Ala4Val), gnomAD 5-87268462-C-T, REVEL 0.31, CADD 24.00
- A4D (p.Ala4Asp), gnomAD 5-87268462-C-A, REVEL 0.33, CADD 23.90
- A4A (p.Ala4Ala), rs745761730, gnomAD 5-87268463-C-G, CADD 14.60
- E5R (p.Glu5Arg), gnomAD 5-87268456-TGGCGG, CADD 32.00
- E5K (p.Glu5Lys), gnomAD 5-87268464-G-A, REVEL 0.42, CADD 29.90
- E5D (p.Glu5Asp), gnomAD 5-87268466-G-T, REVEL 0.32, CADD 26.30
- A6D (p.Ala6Asp), gnomAD rs1010729751, REVEL 0.24, CADD 22.80, Uncertain significance
- A6V (p.Ala6Val), rs1010729751, ClinGen CA16611923, ClinVar RCV000469146, ClinVar RCV002411513, REVEL 0.13, CADD 16.50, Uncertain significance, Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- A6S (p.Ala6Ser), gnomAD 5-87268467-G-T, REVEL 0.24, CADD 21.40
- A6T (p.Ala6Thr), gnomAD 5-87268467-G-A, REVEL 0.26, CADD 22.20
- A6A (p.Ala6Ala), rs992101983, gnomAD 5-87268469-C-A, CADD 14.40
- G7R (p.Gly7Arg), rs1250999130, ClinGen CA360416618, ClinVar RCV003761152, gnomAD rs1250999130, REVEL 0.30, CADD 26.10, Conflicting interpretations, Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- G7S (p.Gly7Ser), rs1250999130, ClinGen CA360416619, ClinVar RCV002417096, gnomAD rs1250999130, REVEL 0.17, CADD 22.00, Uncertain significance, Cardiovascular phenotype
- G7D (p.Gly7Asp), gnomAD 5-87268471-G-A, REVEL 0.30, CADD 23.90
- G7A (p.Gly7Ala), rs1405965051, gnomAD 5-87269055-G-C, CADD 7.61
- G7I (p.Gly7Ile), gnomAD 5-87269258-CGG-C, CADD 13.20
- G7G (p.Gly7Gly), rs1268605005, gnomAD 5-87269261-A-C, CADD 16.20
- S8I (p.Ser8Ile), rs1479481218, ClinGen CA360416628, ClinVar RCV003377670, TOPMed rs1479481218, REVEL 0.33, CADD 22.90, Uncertain significance, Cardiovascular phenotype
- S8N (p.Ser8Asn), TOPMed rs1479481218, gnomAD rs1479481218, Uncertain significance
- S8R (p.Ser8Arg), Ensembl rs1580178374, REVEL 0.32, CADD 22.80, Uncertain significance, Cardiovascular phenotype
- S8T (p.Ser8Thr), rs1479481218, ClinGen CA360416627, ClinVar RCV002785925, TOPMed rs1479481218, REVEL 0.30, CADD 22.30, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- S8Y (p.Ser8Tyr), rs898182262, gnomAD 5-87269269-C-A, CADD 11.30
- S8C (p.Ser8Cys), rs898182262, gnomAD 5-87269269-C-G, CADD 11.60
- E9D (p.Glu9Asp), rs1205377315, ClinGen CA360416639, ClinVar RCV001227386, ClinVar RCV002436880, AlphaMissense 0.14, MetaLR 0.40, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- E9G (p.Glu9Gly), Ensembl rs1580178377, REVEL 0.35, CADD 29.90
- E9E (p.Glu9Glu), gnomAD 5-87268478-G-A, CADD 12.80
- E10D (p.Glu10Asp), Ensembl rs1024971030, REVEL 0.18, CADD 15.90
- E10K (p.Glu10Lys), ExAC rs769821061, gnomAD rs769821061, REVEL 0.28, CADD 24.20
- E10V (p.Glu10Val), rs2531001934, ClinGen CA360416644, ClinVar RCV003594355, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- G11S (p.Gly11Ser), rs774248606, ClinGen CA3335309, ClinVar RCV002653552, ExAC rs774248606, REVEL 0.27, CADD 22.80, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- G11D (p.Gly11Asp), gnomAD 5-87268483-G-A, REVEL 0.30, CADD 23.70
- G11G (p.Gly11Gly), gnomAD 5-87268484-C-A, CADD 14.00
- G12A (p.Gly12Ala), TOPMed rs1490204625, gnomAD rs1490204625
- G12C (p.Gly12Cys), rs1753664187, ClinGen CA360416653, ClinVar RCV001936719, TOPMed rs1753664187, REVEL 0.41, AlphaMissense 0.14, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- G12D (p.Gly12Asp), TOPMed rs1490204625, gnomAD rs1490204625
- G12S (p.Gly12Ser), rs1753664187, ClinGen CA360416651, ClinVar RCV001338628, TOPMed rs1753664187, AlphaMissense 0.14, MetaLR 0.51, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- G12G (p.Gly12Gly), gnomAD 5-87268487-C-A, CADD 13.80
- P13A (p.Pro13Ala), TOPMed rs1191737466, gnomAD rs1191737466, REVEL 0.19, CADD 21.30, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- P13R (p.Pro13Arg), rs761910879, ClinGen CA3335310, ClinVar RCV003760434, ExAC rs761910879, REVEL 0.17, CADD 23.40, Conflicting interpretations, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- P13S (p.Pro13Ser), rs1191737466, TOPMed rs1191737466, gnomAD rs1191737466, REVEL 0.16, CADD 20.20, Variant assessed as somatic; moderate impact.
- P13T (p.Pro13Thr), gnomAD 5-87268488-C-A, REVEL 0.15, CADD 23.10
- P13L (p.Pro13Leu), gnomAD 5-87268489-C-T, REVEL 0.16, CADD 23.50
- P13Q (p.Pro13Gln), gnomAD 5-87268489-C-A, REVEL 0.18, CADD 23.60
- P13P (p.Pro13Pro), gnomAD 5-87268490-G-A, CADD 14.20
- V14I (p.Val14Ile), gnomAD 5-87268491-G-A, REVEL 0.20, CADD 21.90
- V14F (p.Val14Phe), rs1012570231, gnomAD 5-87269271-G-T, CADD 11.20
- V14D (p.Val14Asp), rs1183027269, gnomAD 5-87269272-T-A, CADD 8.29
- V14V (p.Val14Val), gnomAD 5-87269273-C-G, CADD 7.38
- T15A (p.Thr15Ala), rs1426539498, ClinGen CA360416669, ClinVar RCV003080650, gnomAD rs1426539498, REVEL 0.10, CADD 14.90, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- T15I (p.Thr15Ile), rs899638423, ClinGen CA122462651, ClinVar RCV001156358, ClinVar RCV005093663, REVEL 0.18, CADD 22.10, Uncertain significance, Capillary malformation-arteriovenous malformation 1; Capillary malformation-arte
- T15N (p.Thr15Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- T15R (p.Thr15Arg), TOPMed rs899638423, gnomAD rs899638423, REVEL 0.20, CADD 22.50, Uncertain significance
- T15T (p.Thr15Thr), gnomAD 5-87268496-A-T, CADD 8.92
- A16S (p.Ala16Ser), gnomAD 5-87268497-G-T, REVEL 0.19, CADD 21.90
- A16T (p.Ala16Thr), gnomAD 5-87268497-G-A, REVEL 0.18, CADD 22.10
- A16G (p.Ala16Gly), gnomAD 5-87268498-C-G, REVEL 0.22, CADD 22.80
- A16A (p.Ala16Ala), gnomAD 5-87268499-C-T, CADD 13.40
- G17R (p.Gly17Arg), gnomAD rs1431316115, REVEL 0.32, CADD 24.30, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- G17V (p.Gly17Val), rs2531002038, ClinGen CA360416684, ClinVar RCV003024990, REVEL 0.26, CADD 23.30, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- G17E (p.Gly17Glu), gnomAD 5-87268497-GC-G, CADD 25.10
- G17G (p.Gly17Gly), gnomAD 5-87268502-A-C, CADD 13.20
- A18T (p.Ala18Thr), gnomAD rs1300904136, REVEL 0.16, CADD 20.40
- A18S (p.Ala18Ser), gnomAD 5-87268503-G-T, REVEL 0.17, CADD 19.40
- A18D (p.Ala18Asp), gnomAD 5-87268504-C-A, REVEL 0.23, CADD 23.20
- A18V (p.Ala18Val), gnomAD 5-87268504-C-T, REVEL 0.15, CADD 21.10
- G19V (p.Gly19Val), gnomAD 5-87268507-G-T, REVEL 0.18, CADD 19.40
- G20V (p.Gly20Val), gnomAD 5-87268510-G-T, REVEL 0.32, CADD 23.40
- G20G (p.Gly20Gly), gnomAD 5-87268511-A-G, CADD 6.78
- G21C (p.Gly21Cys), TOPMed rs1389714364, gnomAD rs1389714364, REVEL 0.42, CADD 24.90, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- G21D (p.Gly21Asp), rs1436547254, ClinGen CA360416708, ClinVar RCV002049013, ClinVar RCV004982870, REVEL 0.38, CADD 23.30, Conflicting interpretations, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- G21G (p.Gly21Gly), gnomAD 5-87268514-C-A, CADD 8.31
- G22C (p.Gly22Cys), rs371413736, ClinGen CA3335313, ClinVar RCV000757714, ClinVar RCV001206753, REVEL 0.30, CADD 24.10, Conflicting interpretations, Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- G22D (p.Gly22Asp), TOPMed rs1404507632, gnomAD rs1404507632, REVEL 0.17, CADD 19.00
- G22S (p.Gly22Ser), ESP rs371413736, ExAC rs371413736, TOPMed rs371413736, gnomAD rs371413736, REVEL 0.23, CADD 22.30, Uncertain significance, Cardiovascular phenotype
- p.Gly22dup, rs1753665591, gnomAD 5-87268505-T-TGGA, CADD 16.80
- G22del (p.Gly22del), rs749204950, gnomAD 5-87268511-AGGC-A, CADD 18.10
- G22V (p.Gly22Val), gnomAD 5-87268516-G-T, REVEL 0.15, CADD 18.90
- G22A (p.Gly22Ala), gnomAD 5-87268516-G-C, REVEL 0.12, CADD 16.40
- G22G (p.Gly22Gly), rs1753666309, gnomAD 5-87268517-C-T, CADD 10.70
- A23E (p.Ala23Glu), ExAC rs760944130, gnomAD rs760944130, REVEL 0.14, CADD 16.70, Likely benign
- A23G (p.Ala23Gly), rs760944130, ClinGen CA3335314, ClinVar RCV002016698, ClinVar RCV002361397, REVEL 0.14, CADD 16.00, Conflicting interpretations, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- A23P (p.Ala23Pro), rs2531002115, ClinGen CA360416715, ClinVar RCV003759548, REVEL 0.19, CADD 22.10, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- A23T (p.Ala23Thr), rs2531002115, ClinGen CA360416714, ClinVar RCV003283494, ClinVar RCV006472326, Uncertain significance, Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- A23S (p.Ala23Ser), gnomAD 5-87268518-G-T, REVEL 0.13, CADD 19.60
- A23V (p.Ala23Val), gnomAD 5-87268519-C-T, REVEL 0.16, CADD 18.00
- A23A (p.Ala23Ala), gnomAD 5-87268520-G-T, CADD 10.30
- A24G (p.Ala24Gly), rs1364111237, ClinGen CA360416722, ClinVar RCV000756592, TOPMed rs1364111237, AlphaMissense 0.07, MetaLR 0.19, Likely benign, not provided
- A24S (p.Ala24Ser), gnomAD 5-87268521-G-T, REVEL 0.23, CADD 21.20
- A24T (p.Ala24Thr), gnomAD 5-87268521-G-A, REVEL 0.26, CADD 21.50
- A24V (p.Ala24Val), gnomAD 5-87268522-C-T, REVEL 0.15, CADD 19.70
- A24A (p.Ala24Ala), rs913630473, gnomAD 5-87268523-A-G, CADD 7.74
- A25T (p.Ala25Thr), Ensembl rs1753666743, REVEL 0.12, CADD 22.10
- A25S (p.Ala25Ser), gnomAD 5-87268524-G-T, REVEL 0.13, CADD 17.30
- A25E (p.Ala25Glu), gnomAD 5-87268525-C-A, REVEL 0.08, CADD 18.40
- A25V (p.Ala25Val), gnomAD 5-87268525-C-T, REVEL 0.10, CADD 18.90
- A25A (p.Ala25Ala), gnomAD 5-87268526-G-T, CADD 5.95
- G26D (p.Gly26Asp), ExAC rs765793195, TOPMed rs765793195, gnomAD rs765793195, REVEL 0.12, CADD 13.80, Likely benign
- G26V (p.Gly26Val), rs765793195, ClinGen CA3335318, ClinVar RCV002409911, ClinVar RCV005097156, REVEL 0.06, CADD 17.40, Conflicting interpretations, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- G26S (p.Gly26Ser), gnomAD 5-87268527-G-A, REVEL 0.09, CADD 20.20
- G26G (p.Gly26Gly), gnomAD 5-87268529-C-A, CADD 10.40
- S27F (p.Ser27Phe), rs2531002176, ClinGen CA360416740, ClinVar RCV003760162, REVEL 0.10, CADD 18.40, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- S27P (p.Ser27Pro), rs1753667262, ClinGen CA360416736, ClinVar RCV001158032, Ensembl rs1753667262, AlphaMissense 0.06, MetaLR 0.14, Uncertain significance, Capillary malformation-arteriovenous malformation 1
- S27Y (p.Ser27Tyr), gnomAD 5-87268531-C-A, REVEL 0.11, CADD 16.80
- S27S (p.Ser27Ser), rs757997683, gnomAD 5-87268532-C-T, CADD 5.30
- S28G (p.Ser28Gly), rs1289822620, ClinGen CA360416742, ClinVar RCV003593540, ClinVar RCV005725063, REVEL 0.06, CADD 4.26, Conflicting interpretations, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- S28N (p.Ser28Asn), TOPMed rs1753667550
- A29S (p.Ala29Ser), rs777487947, ClinGen CA3335321, ClinVar RCV003068246, ExAC rs777487947, REVEL 0.07, CADD 5.86, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- A29T (p.Ala29Thr), rs777487947, ClinGen CA360416749, ClinVar RCV001894204, ExAC rs777487947, REVEL 0.10, CADD 9.20, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- A29V (p.Ala29Val), TOPMed rs1251987243, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- A29D (p.Ala29Asp), gnomAD 5-87268537-C-A, REVEL 0.15, CADD 13.10
- A29A (p.Ala29Ala), rs1222333572, gnomAD 5-87268538-C-G, CADD 8.93
- Y30C (p.Tyr30Cys), rs376663338, ClinGen CA3335322, ClinVar RCV001987994, ClinVar RCV004794564, REVEL 0.10, CADD 10.10, Uncertain significance, not provided; Capillary malformation-arteriovenous malformation syndrome
- Y30N (p.Tyr30Asn), rs2531002210, ClinGen CA360416756, ClinVar RCV003758595, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- p.Tyr5 Ser6del, gnomAD 5-87269261-ATATAG, CADD 13.30
- Y30Y (p.Tyr30Tyr), rs1466065215, gnomAD 5-87269264-T-C, CADD 15.40
- P31H (p.Pro31His), TOPMed rs1484820367, gnomAD rs1484820367, REVEL 0.17, AlphaMissense 0.20, Uncertain significance
- P31L (p.Pro31Leu), rs1484820367, ClinGen CA360416765, ClinVar RCV003049722, ClinVar RCV005473305, REVEL 0.15, AlphaMissense 0.20, Uncertain significance, Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- P31R (p.Pro31Arg), rs1484820367, ClinGen CA360416764, ClinVar RCV001341289, TOPMed rs1484820367, AlphaMissense 0.20, MetaLR 0.20, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- P31S (p.Pro31Ser), rs899534730, ClinGen CA122462654, ClinVar RCV002765668, Ensembl rs899534730, REVEL 0.09, AlphaMissense 0.09, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- P31T (p.Pro31Thr), rs899534730, ClinGen CA360416762, ClinVar RCV002304435, ClinVar RCV004047649, AlphaMissense 0.09, MetaLR 0.15, Uncertain significance, Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- P31A (p.Pro31Ala), gnomAD 5-87268542-C-G, REVEL 0.12, CADD 8.39
- P31P (p.Pro31Pro), rs1185847883, gnomAD 5-87268544-C-G, CADD 4.83
- A32V (p.Ala32Val), TOPMed rs1248485806, gnomAD rs1248485806, REVEL 0.09, CADD 12.40, Uncertain significance, Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- A32T (p.Ala32Thr), gnomAD 5-87268545-G-A, REVEL 0.13, CADD 14.80
- A32S (p.Ala32Ser), gnomAD 5-87268545-G-T, REVEL 0.13, CADD 13.30
- A32E (p.Ala32Glu), gnomAD 5-87268546-C-A, REVEL 0.07, CADD 9.90
- A32A (p.Ala32Ala), gnomAD 5-87268547-A-G, CADD 3.75
- V33A (p.Val33Ala), rs2112222218, ClinGen CA360416776, ClinVar RCV001902805, Ensembl rs2112222218, REVEL 0.06, CADD 10.10, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- V33V (p.Val33Val), gnomAD 5-87268550-G-A, CADD 9.18
- C34R (p.Cys34Arg), rs757010847, ClinGen CA3335323, ClinVar RCV002025617, ClinVar RCV004982836, REVEL 0.36, CADD 22.50, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- R35G (p.Arg35Gly), TOPMed rs1161338399, gnomAD rs1161338399, REVEL 0.46, CADD 24.80
- R35W (p.Arg35Trp), rs1161338399, ClinGen CA360416786, ClinVar RCV002389615, REVEL 0.50, CADD 26.10, Uncertain significance, Cardiovascular phenotype
- R35R (p.Arg35Arg), gnomAD 5-87268554-C-A, CADD 12.40
- R35T (p.Arg35Thr), rs1753714984, gnomAD 5-87269254-G-C, CADD 11.60
- R35M (p.Arg35Met), gnomAD 5-87269287-G-T, CADD 12.30
- V36G (p.Val36Gly), ExAC rs769577644, gnomAD rs769577644, REVEL 0.21, CADD 22.90
- V36L (p.Val36Leu), ExAC rs745698926, TOPMed rs745698926, gnomAD rs745698926, REVEL 0.18, CADD 18.00
- V36V (p.Val36Val), rs1352133642, gnomAD 5-87268559-G-A, CADD 12.80
- K37N (p.Lys37Asn), rs181218870, ClinGen CA3335328, ClinVar RCV002907997, 1000Genomes rs181218870, REVEL 0.28, CADD 23.20, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- K37R (p.Lys37Arg), rs780044015, ClinGen CA3335327, ClinVar RCV001235297, ExAC rs780044015, REVEL 0.07, CADD 14.80, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- p.Lys37dup, rs1753671437, gnomAD 5-87268558-T-TGAA, CADD 17.10
- K37T (p.Lys37Thr), gnomAD 5-87268561-A-C, REVEL 0.12, CADD 20.40
- K37* (p.Lys37Ter), gnomAD 5-87269273-CCCTT-, CADD 9.79
- K37M (p.Lys37Met), gnomAD 5-87269281-A-T, CADD 9.54
- K37K (p.Lys37Lys), rs1023251061, gnomAD 5-87269282-G-A, CADD 7.50
- I38L (p.Ile38Leu), gnomAD rs1366425562, REVEL 0.16, CADD 16.50
- I38V (p.Ile38Val), gnomAD 5-87268563-A-G, REVEL 0.14, CADD 14.60
- I38M (p.Ile38Met), gnomAD 5-87268565-A-G, REVEL 0.15, CADD 4.06
- I38I (p.Ile38Ile), rs1580178578, gnomAD 5-87268565-A-C, CADD 5.56
- P39A (p.Pro39Ala), rs772125504, ClinGen CA3335329, ClinVar RCV001298671, ExAC rs772125504, REVEL 0.24, CADD 18.30, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- P39H (p.Pro39His), ExAC rs760851896, gnomAD rs760851896, REVEL 0.37, CADD 23.30, Likely benign
- P39L (p.Pro39Leu), rs760851896, ClinGen CA3335331, ClinVar RCV003761145, ClinVar RCV004985583, REVEL 0.33, CADD 22.30, Conflicting interpretations, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- P39S (p.Pro39Ser), ExAC rs772125504, TOPMed rs772125504, gnomAD rs772125504, REVEL 0.25, CADD 19.80, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- P39T (p.Pro39Thr), rs772125504, ClinGen CA3335330, ClinVar RCV004438555, ExAC rs772125504, REVEL 0.28, CADD 19.20, Uncertain significance, Cardiovascular phenotype
- P39P (p.Pro39Pro), rs1355856058, gnomAD 5-87268568-C-G, CADD 8.77
- A40S (p.Ala40Ser), rs776808593, ClinGen CA3335333, ClinVar RCV002605810, ClinVar RCV004656953, REVEL 0.18, CADD 15.50, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- A40T (p.Ala40Thr), rs776808593, ClinGen CA360416809, ClinVar RCV003866741, ClinVar RCV005715082, REVEL 0.19, CADD 16.90, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- A40V (p.Ala40Val), TOPMed rs1292190099, gnomAD rs1292190099, REVEL 0.13, CADD 15.30, Uncertain significance, Capillary malformation-arteriovenous malformation syndrome
- A40E (p.Ala40Glu), gnomAD 5-87268570-C-A, REVEL 0.10, CADD 9.46
- A40A (p.Ala40Ala), rs1315195533, gnomAD 5-87268571-G-A, CADD 9.02
- A41S (p.Ala41Ser), gnomAD 5-87268572-G-T, REVEL 0.09, CADD 14.30
- A41A (p.Ala41Ala), rs1223196760, gnomAD 5-87268574-C-T, CADD 8.88
- L42P (p.Leu42Pro), Ensembl rs74392217, REVEL 0.24, CADD 23.70
- L42L (p.Leu42Leu), rs1753672813, gnomAD 5-87268575-C-T, CADD 5.64
- L42F (p.Leu42Phe), gnomAD 5-87269285-G-C, CADD 11.70
- P43A (p.Pro43Ala), gnomAD rs1268669506, REVEL 0.20, CADD 17.70
- P43L (p.Pro43Leu), gnomAD rs1466107957, REVEL 0.27, CADD 21.80
- P43S (p.Pro43Ser), gnomAD 5-87268578-C-T, REVEL 0.22, CADD 19.10
- P43P (p.Pro43Pro), rs765607026, gnomAD 5-87268580-T-C, CADD 3.09
- V44A (p.Val44Ala), ExAC rs753247234, gnomAD rs753247234
- V44L (p.Val44Leu), Ensembl rs2112222327, REVEL 0.07, CADD 15.00
- A45E (p.Ala45Glu), gnomAD 5-87268585-C-A, REVEL 0.15, CADD 17.10
Public RASA1 analysis runs
- RASA1 analysis run — RASA1 (1,535 variants) — completed 2026-08-21