F9C (p.Phe9Cys) variant of F8 (Coagulation factor VIII)
F9C (p.Phe9Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of F8-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F9C (p.Phe9Cys) variant details
- p.Phe9Cys
- rs367557760
- ClinGen CA10568653
- ClinVar RCV003399774
- ESP rs367557760
- Uncertain significance
- F8-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.63
- MetaLR 0.90
- MetaSVM 0.70
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (F8-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-05)
- Structural context available