C540Y (p.Cys540Tyr) variant of RASA1 (Ras GTPase-activating protein 1)
C540Y (p.Cys540Tyr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Capillary malformation-arteriovenous malformation 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
C540Y (p.Cys540Tyr) variant details
- p.Cys540Tyr
- rs137853217
- ClinGen CA257406
- ClinVar RCV000017372
- UniProt VAR 017744
- Pathogenic
- Capillary malformation-arteriovenous malformation 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.99
- MetaLR 0.17
- MetaSVM -0.73
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic (Capillary malformation-arteriovenous malformation 1)
- EBI: Pathogenic (in CMAVM1)
- UniProt: Pathogenic (in CMAVM1)
- Structural context available
- Cited in: Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (PMID 14639529)
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)