E10V (p.Glu10Val) variant of RASA1 (Ras GTPase-activating protein 1)
E10V (p.Glu10Val) 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 record also includes experimental measurements, published literature, and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- rs2531001934
- ClinGen CA360416644
- ClinVar RCV003594355
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.434
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)