V424M (p.Val424Met) variant of F2 (Prothrombin)
V424M (p.Val424Met) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V424M (p.Val424Met) variant details
- p.Val424Met
- rs1310397756
- ClinGen CA380269977
- ClinVar RCV001420456
- gnomAD rs1310397756
- Likely pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.89
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital prothrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available