A40V (p.Ala40Val) variant of RASA1 (Ras GTPase-activating protein 1)
A40V (p.Ala40Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- TOPMed rs1292190099
- gnomAD rs1292190099
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.13
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.814