E352K (p.Glu352Lys) variant of F2 (Prothrombin)
E352K (p.Glu352Lys) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E352K (p.Glu352Lys) variant details
- p.Glu352Lys
- rs121918484
- ClinGen CA123019
- NCI-TCGA Cosmic COSV6131
- cosmic curated COSV61314
- Pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.82
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and… (PMID 10651742)