Q70E (p.Gln70Glu) variant of KRT4 (Keratin, type II cytoskeletal 4)
Q70E (p.Gln70Glu) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q70E (p.Gln70Glu) variant details
- p.Gln70Glu
- Ensembl rs2121257963
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.22
- CADD 17.60
- Population evidence available
- Structural context available