P50P (p.Pro50Pro) variant of F8 (Coagulation factor VIII)
P50P (p.Pro50Pro) in F8 (Coagulation factor VIII) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P50P (p.Pro50Pro) variant details
- p.Pro50Pro
- rs2072867291
- gnomAD X-154882049-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 3.13
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available