R596L (p.Arg596Leu) variant of F2 (Prothrombin)
R596L (p.Arg596Leu) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to thrombin defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
R596L (p.Arg596Leu) variant details
- p.Arg596Leu
- rs387907201
- ClinGen CA342808
- ClinVar RCV005419875
- TOPMed rs387907201
- Pathogenic
- Thrombophilia due to thrombin defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.68
- MetaLR 0.52
- MetaSVM 0.25
- PolyPhen-2 0.89
- EVE 0.56
- MutPred 0.74
- ClinVar: Pathogenic (Thrombophilia due to thrombin defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Thrombosis from a prothrombin mutation conveying antithrombin resistance. (PMID 22716977)
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)