G21D (p.Gly21Asp) variant of RASA1 (Ras GTPase-activating protein 1)
G21D (p.Gly21Asp) 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 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs1436547254
- ClinGen CA360416708
- ClinVar RCV002049013
- ClinVar RCV004982870
- Conflicting interpretations
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.38
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0907
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)