Q5P (p.Gln5Pro) variant of KRT9 (Keratin, type I cytoskeletal 9)
Q5P (p.Gln5Pro) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q5P (p.Gln5Pro) variant details
- p.Gln5Pro
- ExAC rs758757943
- gnomAD rs758757943
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available