G91R (p.Gly91Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
G91R (p.Gly91Arg) 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 0.34 / 1. The record also includes population frequency data and structural context.
G91R (p.Gly91Arg) variant details
- p.Gly91Arg
- TOPMed rs1403721883
- gnomAD rs1403721883
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.42
- CADD 20.30
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available