C34R (p.Cys34Arg) variant of RASA1 (Ras GTPase-activating protein 1)
C34R (p.Cys34Arg) 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; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C34R (p.Cys34Arg) variant details
- p.Cys34Arg
- rs757010847
- ClinGen CA3335323
- ClinVar RCV002025617
- ClinVar RCV004982836
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.11
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.188
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)