A106P (p.Ala106Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
A106P (p.Ala106Pro) 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 0.24 / 1. The record also includes population frequency data and structural context.
A106P (p.Ala106Pro) variant details
- p.Ala106Pro
- ESP rs199642796
- ExAC rs199642796
- TOPMed rs199642796
- gnomAD rs199642796
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.22
- CADD 4.02
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available