E84G (p.Glu84Gly) variant of KRT17 (Keratin, type I cytoskeletal 17)
E84G (p.Glu84Gly) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E84G (p.Glu84Gly) variant details
- p.Glu84Gly
- gnomAD rs1363382784
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available