G17V (p.Gly17Val) variant of RASA1 (Ras GTPase-activating protein 1)
G17V (p.Gly17Val) 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 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- rs2531002038
- ClinGen CA360416684
- ClinVar RCV003024990
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.01
- 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 1.8e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.084
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)