G21C (p.Gly21Cys) variant of RASA1 (Ras GTPase-activating protein 1)
G21C (p.Gly21Cys) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Capillary malformation-arteriovenous malformation syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- TOPMed rs1389714364
- gnomAD rs1389714364
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.42
- CADD 24.90
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- 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 -0.0907