K164N (p.Lys164Asn) variant of F12 (Coagulation factor XII)
K164N (p.Lys164Asn) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
K164N (p.Lys164Asn) variant details
- p.Lys164Asn
- TOPMed rs1763257268
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.09
- CADD 10.10
- PolyPhen-2 0.52
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available