G49V (p.Gly49Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
G49V (p.Gly49Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
G49V (p.Gly49Val) variant details
- p.Gly49Val
- 1000Genomes rs537655743
- ExAC rs537655743
- gnomAD rs537655743
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 18.50
- PolyPhen-2 0.25
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)