S8T (p.Ser8Thr) variant of RASA1 (Ras GTPase-activating protein 1)
S8T (p.Ser8Thr) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- rs1479481218
- ClinGen CA360416627
- ClinVar RCV002785925
- TOPMed rs1479481218
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.30
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0836
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)