K117N (p.Lys117Asn) variant of KRT8 (Keratin, type II cytoskeletal 8)
K117N (p.Lys117Asn) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
K117N (p.Lys117Asn) variant details
- p.Lys117Asn
- TOPMed rs1287265741
- gnomAD rs1287265741
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)