A32V (p.Ala32Val) variant of RASA1 (Ras GTPase-activating protein 1)
A32V (p.Ala32Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- TOPMed rs1248485806
- gnomAD rs1248485806
- Uncertain significance
- Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype; Capillary malformation-arteriovenous m)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0302