G19S (p.Gly19Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
G19S (p.Gly19Ser) 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.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- 1000Genomes rs558623005
- ExAC rs558623005
- TOPMed rs558623005
- gnomAD rs558623005
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.27
- CADD 10.60
- PolyPhen-2 0.05
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available