A17S (p.Ala17Ser) variant of F2 (Prothrombin)
A17S (p.Ala17Ser) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pregnancy loss, recurrent, susceptibility to, 2; Ischemic stroke; Congenital pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- TOPMed rs1394538588
- gnomAD rs1394538588
- Uncertain significance
- Pregnancy loss, recurrent, susceptibility to, 2; Ischemic stroke; Congenital pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.30
- CADD 7.42
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Uncertain significance (Pregnancy loss, recurrent, susceptibility to, 2; Ischemic stroke)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available