V33A (p.Val33Ala) variant of RASA1 (Ras GTPase-activating protein 1)
V33A (p.Val33Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- rs2112222218
- ClinGen CA360416776
- ClinVar RCV001902805
- Ensembl rs2112222218
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0972
- REVEL 0.06
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0506
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)