Q5E (p.Gln5Glu) variant of KRT4 (Keratin, type II cytoskeletal 4)
Q5E (p.Gln5Glu) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- ExAC rs762899018
- TOPMed rs762899018
- gnomAD rs762899018
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available