G26V (p.Gly26Val) variant of RASA1 (Ras GTPase-activating protein 1)
G26V (p.Gly26Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G26V (p.Gly26Val) variant details
- p.Gly26Val
- rs765793195
- ClinGen CA3335318
- ClinVar RCV002409911
- ClinVar RCV005097156
- Conflicting interpretations
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0284
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)