G78E (p.Gly78Glu) variant of KRT17 (Keratin, type I cytoskeletal 17)
G78E (p.Gly78Glu) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G78E (p.Gly78Glu) variant details
- p.Gly78Glu
- 1000Genomes rs11553454
- ExAC rs11553454
- TOPMed rs11553454
- gnomAD rs11553454
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.54
- CADD 23.00
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available