Q89H (p.Gln89His) variant of KRT17 (Keratin, type I cytoskeletal 17)
Q89H (p.Gln89His) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Q89H (p.Gln89His) variant details
- p.Gln89His
- ExAC rs746060683
- TOPMed rs746060683
- gnomAD rs746060683
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available