Y30C (p.Tyr30Cys) variant of RASA1 (Ras GTPase-activating protein 1)
Y30C (p.Tyr30Cys) 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 not provided; Capillary malformation-arteriovenous malformation syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- rs376663338
- ClinGen CA3335322
- ClinVar RCV001987994
- ClinVar RCV004794564
- Uncertain significance
- not provided; Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Capillary malformation-arteriovenous malformation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.397
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)