R1936C (p.Arg1936Cys) variant of F8 (Coagulation factor VIII)
R1936C (p.Arg1936Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R1936C (p.Arg1936Cys) variant details
- p.Arg1936Cys
- rs781792644
- ClinGen CA10567941
- NCI-TCGA Cosmic COSV6427
- ClinVar RCV002249953
- Pathogenic
- Thrombophilia, X-linked, due to factor 8 defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.61
- MetaLR 0.94
- MetaSVM 0.74
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 8 defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available