A106S (p.Ala106Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
A106S (p.Ala106Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A106S (p.Ala106Ser) variant details
- p.Ala106Ser
- ESP rs199642796
- ExAC rs199642796
- TOPMed rs199642796
- gnomAD rs199642796
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.14
- CADD 9.47
- PolyPhen-2 0.44
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available