A29V (p.Ala29Val) variant of RASA1 (Ras GTPase-activating protein 1)
A29V (p.Ala29Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno. The record also includes experimental measurements and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- TOPMed rs1251987243
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome; Card)
- UniProt: Uncertain significance
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.879