Q7R (p.Gln7Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
Q7R (p.Gln7Arg) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- 1000Genomes rs553672396
- ExAC rs553672396
- TOPMed rs553672396
- gnomAD rs553672396
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available