G92D (p.Gly92Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G92D (p.Gly92Asp) 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 0.47 / 1. The record also includes population frequency data and structural context.
G92D (p.Gly92Asp) variant details
- p.Gly92Asp
- ExAC rs777762700
- TOPMed rs777762700
- gnomAD rs777762700
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.57
- CADD 21.80
- PolyPhen-2 0.88
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available