P103L (p.Pro103Leu) variant of F12 (Coagulation factor XII)
P103L (p.Pro103Leu) in F12 (Coagulation factor XII) 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.
P103L (p.Pro103Leu) variant details
- p.Pro103Leu
- ExAC rs769517704
- gnomAD rs769517704
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.73
- CADD 23.80
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available