P31S (p.Pro31Ser) variant of RASA1 (Ras GTPase-activating protein 1)
P31S (p.Pro31Ser) 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 Capillary malformation-arteriovenous malformation syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs899534730
- ClinGen CA122462654
- ClinVar RCV002765668
- Ensembl rs899534730
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.97
- CADD 15.30
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0567
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)