G19S (p.Gly19Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G19S (p.Gly19Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- 1000Genomes rs769745467
- ExAC rs769745467
- TOPMed rs769745467
- gnomAD rs769745467
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.23
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available