V12L (p.Val12Leu) variant of F12 (Coagulation factor XII)
V12L (p.Val12Leu) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- ExAC rs778784557
- TOPMed rs778784557
- gnomAD rs778784557
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.27
- CADD 5.78
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available