T27I (p.Thr27Ile) variant of KRT17 (Keratin, type I cytoskeletal 17)
T27I (p.Thr27Ile) 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 0.34 / 1. The record also includes population frequency data and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- 1000Genomes rs554504293
- ExAC rs554504293
- TOPMed rs554504293
- gnomAD rs554504293
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.20
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available