V103M (p.Val103Met) variant of F8 (Coagulation factor VIII)
V103M (p.Val103Met) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V103M (p.Val103Met) variant details
- p.Val103Met
- TOPMed rs1557285157
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.83
- MetaLR 0.97
- MetaSVM 1.01
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available