G7R (p.Gly7Arg) variant of RASA1 (Ras GTPase-activating protein 1)
G7R (p.Gly7Arg) 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 Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs1250999130
- ClinGen CA360416618
- ClinVar RCV003761152
- gnomAD rs1250999130
- Conflicting interpretations
- Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- CADD 26.10
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Capillary malformation-arteriovenous m)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.366
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)