P31R (p.Pro31Arg) variant of RASA1 (Ras GTPase-activating protein 1)
P31R (p.Pro31Arg) 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 0.36 / 1. The record also includes experimental measurements, published literature, and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- rs1484820367
- ClinGen CA360416764
- ClinVar RCV001341289
- TOPMed rs1484820367
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.20
- MetaLR 0.20
- MetaSVM -0.94
- PolyPhen-2 0.10
- SIFT 0.02
- MutPred 0.41
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0567
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)