Y25C (p.Tyr25Cys) variant of F8 (Coagulation factor VIII)
Y25C (p.Tyr25Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
Y25C (p.Tyr25Cys) variant details
- p.Tyr25Cys
- rs2124174443
- ClinGen CA414920580
- ClinVar RCV001802616
- UniProt VAR 028450
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.38
- MetaLR 0.98
- MetaSVM 1.14
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: The identification and classification of 41 novel mutations in the factor VIII gene (F8C). (PMID 11857744)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)