G67C (p.Gly67Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
G67C (p.Gly67Cys) 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 0.36 / 1. The record also includes population frequency data and structural context.
G67C (p.Gly67Cys) variant details
- p.Gly67Cys
- 1000Genomes rs62066634
- ESP rs62066634
- ExAC rs62066634
- TOPMed rs62066634
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- CADD 13.00
- PolyPhen-2 0.08
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available