P22L (p.Pro22Leu) variant of F12 (Coagulation factor XII)
P22L (p.Pro22Leu) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- gnomAD rs1197761099
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.54
- CADD 23.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available