E357G (p.Glu357Gly) variant of F2 (Prothrombin)
E357G (p.Glu357Gly) 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 0.51 / 1. The record also includes structural context.
E357G (p.Glu357Gly) variant details
- p.Glu357Gly
- rs2134533215
- ClinGen CA380267822
- ClinVar RCV001420454
- Ensembl rs2134533215
- Likely pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.01
- PolyPhen-2 0.01
- EVE 0.34
- MutPred 0.56
- ClinVar: Likely pathogenic (Congenital prothrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available