G102E (p.Gly102Glu) variant of KRT9 (Keratin, type I cytoskeletal 9)
G102E (p.Gly102Glu) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.38 / 1. The record also includes population frequency data and structural context.
G102E (p.Gly102Glu) variant details
- p.Gly102Glu
- ESP rs374319007
- ExAC rs374319007
- TOPMed rs374319007
- gnomAD rs374319007
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.39
- CADD 17.60
- PolyPhen-2 0.89
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available