Q5R (p.Gln5Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
Q5R (p.Gln5Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- ExAC rs758757943
- gnomAD rs758757943
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.51
- SIFT 0.00
- Population evidence available
- Structural context available