K100R (p.Lys100Arg) variant of F12 (Coagulation factor XII)
K100R (p.Lys100Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K100R (p.Lys100Arg) variant details
- p.Lys100Arg
- Ensembl rs1763266982
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.44
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available