G12C (p.Gly12Cys) variant of RASA1 (Ras GTPase-activating protein 1)
G12C (p.Gly12Cys) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- rs1753664187
- ClinGen CA360416653
- ClinVar RCV001936719
- TOPMed rs1753664187
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.41
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM -0.38
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.824
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)