L76R (p.Leu76Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
L76R (p.Leu76Arg) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
L76R (p.Leu76Arg) variant details
- p.Leu76Arg
- Ensembl rs1941469030
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)