G601V (p.Gly601Val) variant of F2 (Prothrombin)
G601V (p.Gly601Val) 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 0.88 / 1. The record also includes published literature and structural context.
G601V (p.Gly601Val) variant details
- p.Gly601Val
- rs121918480
- ClinGen CA123009
- ClinVar RCV002468927
- UniProt VAR 006719
- Pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 1.00
- EVE 0.75
- MutPred 1.00
- ClinVar: Pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic (in FA2D)
- UniProt: Pathogenic (in FA2D)
- Structural context available
- Cited in: Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate… (PMID 2719946)
- Cited in: Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the… (PMID 1349838)