D595E (p.Asp595Glu) variant of F2 (Prothrombin)
D595E (p.Asp595Glu) 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 0.81 / 1. The record also includes published literature and structural context.
D595E (p.Asp595Glu) variant details
- p.Asp595Glu
- rs121918486
- ClinGen CA123025
- ClinVar RCV002468932
- Ensembl rs121918486
- Pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.87
- MetaLR 0.74
- MetaSVM 0.74
- PolyPhen-2 0.99
- EVE 0.74
- MutPred 0.89
- ClinVar: Pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552… (PMID 16487178)