G23C (p.Gly23Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
G23C (p.Gly23Cys) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
G23C (p.Gly23Cys) variant details
- p.Gly23Cys
- 1000Genomes rs7226192
- ESP rs7226192
- ExAC rs7226192
- TOPMed rs7226192
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.42
- CADD 17.70
- PolyPhen-2 0.98
- SIFT 0.05
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available