Y175C (p.Tyr175Cys) variant of F8 (Coagulation factor VIII)
Y175C (p.Tyr175Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Factor VIII deficiency. The record also includes variant effect predictions and structural context.
Y175C (p.Tyr175Cys) variant details
- p.Tyr175Cys
- TOPMed rs1411563373
- Likely pathogenic
- Factor VIII deficiency
- Missense
- MetaLR 0.98
- MetaSVM 1.12
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor VIII deficiency)
- UniProt: Likely pathogenic
- Structural context available