G56E (p.Gly56Glu) variant of KRT8 (Keratin, type II cytoskeletal 8)
G56E (p.Gly56Glu) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
G56E (p.Gly56Glu) variant details
- p.Gly56Glu
- gnomAD rs1260986065
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 20.20
- PolyPhen-2 0.84
- SIFT 0.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)