G116E (p.Gly116Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
G116E (p.Gly116Glu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G116E (p.Gly116Glu) variant details
- p.Gly116Glu
- 1000Genomes rs549383569
- ExAC rs549383569
- gnomAD rs549383569
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available