K8R (p.Lys8Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
K8R (p.Lys8Arg) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- 1000Genomes rs560670999
- ExAC rs560670999
- TOPMed rs560670999
- gnomAD rs560670999
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available