G23S (p.Gly23Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G23S (p.Gly23Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- 1000Genomes rs777522790
- ExAC rs777522790
- TOPMed rs777522790
- gnomAD rs777522790
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.36
- CADD 21.60
- PolyPhen-2 0.93
- SIFT 0.24
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available