Y365C (p.Tyr365Cys) variant of F8 (Coagulation factor VIII)
Y365C (p.Tyr365Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y365C (p.Tyr365Cys) variant details
- p.Tyr365Cys
- rs375241473
- ClinGen CA10568501
- NCI-TCGA Cosmic COSV6426
- ClinVar RCV000851582
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.76
- MetaLR 0.96
- MetaSVM 0.94
- CADD 22.40
- PolyPhen-2 0.78
- SIFT 0.05
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the REMAINING population (allele frequency 0.00026)
- Structural context available
- Cited in: The identification and classification of 41 novel mutations in the factor VIII gene (F8C). (PMID 11857744)
- Cited in: Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and… (PMID 15810915)