A40S (p.Ala40Ser) variant of RASA1 (Ras GTPase-activating protein 1)
A40S (p.Ala40Ser) 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 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- rs776808593
- ClinGen CA3335333
- ClinVar RCV002605810
- ClinVar RCV004656953
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.18
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.814
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)