D130Y (p.Asp130Tyr) variant of F5 (Coagulation factor V)
D130Y (p.Asp130Tyr) in F5 (Coagulation factor V) 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 0.82 / 1. The record also includes population frequency data and structural context.
D130Y (p.Asp130Tyr) variant details
- p.Asp130Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.90
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available