P50S (p.Pro50Ser) variant of F8 (Coagulation factor VIII)
P50S (p.Pro50Ser) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- gnomAD rs1557285444
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.45
- MetaLR 0.76
- MetaSVM 0.32
- CADD 5.33
- PolyPhen-2 0.03
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available