C12Y (p.Cys12Tyr) variant of F8 (Coagulation factor VIII)
C12Y (p.Cys12Tyr) in F8 (Coagulation factor VIII) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- NCI-TCGA Cosmic COSV1008
- Ensembl rs2073765295
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.57
- MetaLR 0.95
- MetaSVM 0.92
- CADD 23.10
- PolyPhen-2 0.75
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available