L5P (p.Leu5Pro) variant of F12 (Coagulation factor XII)
L5P (p.Leu5Pro) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- TOPMed rs898340368
- gnomAD rs898340368
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.62
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available