G82E (p.Gly82Glu) variant of KRT17 (Keratin, type I cytoskeletal 17)
G82E (p.Gly82Glu) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G82E (p.Gly82Glu) variant details
- p.Gly82Glu
- TOPMed rs1908648959
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.47
- CADD 21.60
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available