A57T (p.Ala57Thr) variant of KRT8 (Keratin, type II cytoskeletal 8)
A57T (p.Ala57Thr) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- 1000Genomes rs555181492
- ExAC rs555181492
- gnomAD rs555181492
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 16.00
- PolyPhen-2 0.49
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)