G23C (p.Gly23Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
G23C (p.Gly23Cys) in KRT14 (Keratin, type I cytoskeletal 14) 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.
G23C (p.Gly23Cys) variant details
- p.Gly23Cys
- 1000Genomes rs777522790
- ExAC rs777522790
- TOPMed rs777522790
- gnomAD rs777522790
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.61
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available