K132N (p.Lys132Asn) variant of F12 (Coagulation factor XII)
K132N (p.Lys132Asn) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K132N (p.Lys132Asn) variant details
- p.Lys132Asn
- Ensembl rs2127360741
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.14
- CADD 18.20
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available