G19R (p.Gly19Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
G19R (p.Gly19Arg) in KRT17 (Keratin, type I cytoskeletal 17) 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 and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- 1000Genomes rs558623005
- ExAC rs558623005
- TOPMed rs558623005
- gnomAD rs558623005
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.54
- CADD 17.60
- PolyPhen-2 0.87
- SIFT 0.12
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available