R789Q (p.Arg789Gln) variant of RASA1 (Ras GTPase-activating protein 1)
R789Q (p.Arg789Gln) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Capillary malformation-arteriovenous malformation syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
R789Q (p.Arg789Gln) variant details
- p.Arg789Gln
- rs1761468673
- ClinGen CA360382043
- NCI-TCGA Cosmic COSV5719
- cosmic curated COSV57196
- Pathogenic
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- MutPred 0.83
- ClinVar: Pathogenic (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)