A106T (p.Ala106Thr) variant of KRT4 (Keratin, type II cytoskeletal 4)
A106T (p.Ala106Thr) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes population frequency data and structural context.
A106T (p.Ala106Thr) variant details
- p.Ala106Thr
- rs199642796
- ESP rs199642796
- ExAC rs199642796
- TOPMed rs199642796
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.18
- CADD 14.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available