G499E (p.Gly499Glu) variant of F2 (Prothrombin)
G499E (p.Gly499Glu) 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 0.91 / 1. The record also includes structural context.
G499E (p.Gly499Glu) variant details
- p.Gly499Glu
- rs2134537035
- ClinGen CA380271435
- ClinVar RCV001420457
- Ensembl rs2134537035
- Likely pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 1.00
- EVE 0.85
- MutPred 0.88
- ClinVar: Likely pathogenic (Congenital prothrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available