G75E (p.Gly75Glu) variant of KRT9 (Keratin, type I cytoskeletal 9)
G75E (p.Gly75Glu) 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 0.44 / 1. The record also includes population frequency data and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- 1000Genomes rs114289459
- ESP rs114289459
- ExAC rs114289459
- TOPMed rs114289459
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.46
- CADD 14.80
- PolyPhen-2 0.82
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available