A2V (p.Ala2Val) variant of F2 (Prothrombin)
A2V (p.Ala2Val) in F2 (Prothrombin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs775306348
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- ExAC rs775306348
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.26
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available