P31T (p.Pro31Thr) variant of RASA1 (Ras GTPase-activating protein 1)
P31T (p.Pro31Thr) 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 0.34 / 1. The record also includes experimental measurements, published literature, and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- rs899534730
- ClinGen CA360416762
- ClinVar RCV002304435
- ClinVar RCV004047649
- Uncertain significance
- Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.97
- PolyPhen-2 0.04
- SIFT 0.32
- MutPred 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; Capillary malformation-arteriovenous m)
- 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)