T113I (p.Thr113Ile) variant of KRT4 (Keratin, type II cytoskeletal 4)
T113I (p.Thr113Ile) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.45 / 1. The record also includes population frequency data and structural context.
T113I (p.Thr113Ile) variant details
- p.Thr113Ile
- ExAC rs767456647
- gnomAD rs767456647
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.41
- CADD 21.60
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available