R66Q (p.Arg66Gln) variant of F12 (Coagulation factor XII)
R66Q (p.Arg66Gln) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R66Q (p.Arg66Gln) variant details
- p.Arg66Gln
- ExAC rs762421946
- gnomAD rs762421946
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.05
- CADD 14.00
- PolyPhen-2 0.02
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available