R179L (p.Arg179Leu) variant of F12 (Coagulation factor XII)
R179L (p.Arg179Leu) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R179L (p.Arg179Leu) variant details
- p.Arg179Leu
- gnomAD rs1477816023
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.21
- CADD 2.03
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available