A40T (p.Ala40Thr) variant of RASA1 (Ras GTPase-activating protein 1)
A40T (p.Ala40Thr) 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; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs776808593
- ClinGen CA360416809
- ClinVar RCV003866741
- ClinVar RCV005715082
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.19
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.814
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)