R314C (p.Arg314Cys) variant of F2 (Prothrombin)
R314C (p.Arg314Cys) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R314C (p.Arg314Cys) variant details
- p.Arg314Cys
- rs121918477
- ClinGen CA123003
- cosmic curated COSV10031
- ClinVar RCV002468924
- Pathogenic
- Thrombophilia due to thrombin defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.85
- AlphaMissense 0.10
- MetaLR 0.02
- MetaSVM -1.00
- CADD 25.40
- PolyPhen-2 0.05
- ClinVar: Pathogenic (Thrombophilia due to thrombin defect)
- EBI: Pathogenic (in FA2D)
- UniProt: Pathogenic (in FA2D)
- Population evidence available
- Structural context available
- Cited in: Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273. (PMID 3771562)
- Cited in: Activation of prothrombin Barcelona. Evidence for active high molecular weight intermediates. (PMID 444582)