I105V (p.Ile105Val) variant of F8 (Coagulation factor VIII)
I105V (p.Ile105Val) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I105V (p.Ile105Val) variant details
- p.Ile105Val
- TOPMed rs1353015797
- gnomAD rs1353015797
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.46
- MetaLR 0.78
- MetaSVM 0.14
- CADD 10.50
- PolyPhen-2 0.08
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available