K146R (p.Lys146Arg) variant of F12 (Coagulation factor XII)
K146R (p.Lys146Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K146R (p.Lys146Arg) variant details
- p.Lys146Arg
- gnomAD rs1404710905
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available