R596Q (p.Arg596Gln) variant of F2 (Prothrombin)
R596Q (p.Arg596Gln) 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; Congenital prothrombin deficiency; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R596Q (p.Arg596Gln) variant details
- p.Arg596Gln
- rs387907201
- ClinGen CA380259622
- ClinVar RCV003156298
- ClinVar RCV003514423
- Pathogenic
- Thrombophilia due to thrombin defect; Congenital prothrombin deficiency; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.70
- AlphaMissense 0.68
- MetaLR 0.52
- MetaSVM 0.25
- CADD 25.70
- PolyPhen-2 0.89
- ClinVar: Pathogenic (Thrombophilia due to thrombin defect; Congenital prothrombin def)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)
- Cited in: Prothrombin Thrombophilia. (PMID 20301327)