A23T (p.Ala23Thr) variant of RASA1 (Ras GTPase-activating protein 1)
A23T (p.Ala23Thr) 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 Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd. The record also includes experimental measurements, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs2531002115
- ClinGen CA360416714
- ClinVar RCV003283494
- ClinVar RCV006472326
- Uncertain significance
- Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Capillary malformation-arteriovenous m)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.269
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)