K117Q (p.Lys117Gln) variant of KRT8 (Keratin, type II cytoskeletal 8)
K117Q (p.Lys117Gln) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
K117Q (p.Lys117Gln) variant details
- p.Lys117Gln
- TOPMed rs1274893384
- gnomAD rs1274893384
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 27.80
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)