Q90E (p.Gln90Glu) variant of KRT8 (Keratin, type II cytoskeletal 8)
Q90E (p.Gln90Glu) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
Q90E (p.Gln90Glu) variant details
- p.Gln90Glu
- TOPMed rs958536238
- gnomAD rs958536238
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.58
- Most common in the South Asian population (allele frequency 1.2e-05)