Q28L (p.Gln28Leu) variant of KRT1 (Keratin, type II cytoskeletal 1)
Q28L (p.Gln28Leu) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.19 / 1. The record also includes population frequency data and structural context.
Q28L (p.Gln28Leu) variant details
- p.Gln28Leu
- 1000Genomes rs536680291
- ExAC rs536680291
- gnomAD rs536680291
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.14
- CADD 10.90
- PolyPhen-2 0.01
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available