E343K (p.Glu343Lys) variant of F2 (Prothrombin)
E343K (p.Glu343Lys) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E343K (p.Glu343Lys) variant details
- p.Glu343Lys
- rs121918483
- ClinGen CA123016
- cosmic curated COSV10515
- ClinVar RCV002468929
- Pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.86
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- EVE 0.75
- MutPred 0.88
- ClinVar: Pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and… (PMID 10651742)