Y24C (p.Tyr24Cys) variant of F8 (Coagulation factor VIII)
Y24C (p.Tyr24Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- UniProt VAR 028449
- Pathogenic
- in HEMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.15
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)