R66W (p.Arg66Trp) variant of F12 (Coagulation factor XII)
R66W (p.Arg66Trp) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R66W (p.Arg66Trp) variant details
- p.Arg66Trp
- 1000Genomes rs368879882
- ExAC rs368879882
- TOPMed rs368879882
- gnomAD rs368879882
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.18
- CADD 15.40
- PolyPhen-2 0.03
- SIFT 0.25
- Most common in the 1KG:KHV population (allele frequency 0.02)
- Structural context available