G12S (p.Gly12Ser) variant of RASA1 (Ras GTPase-activating protein 1)
G12S (p.Gly12Ser) 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 0.49 / 1. The record also includes experimental measurements, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs1753664187
- ClinGen CA360416651
- ClinVar RCV001338628
- TOPMed rs1753664187
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.18
- 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 -0.824
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)