S5C (p.Ser5Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S5C (p.Ser5Cys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- 1000Genomes rs563614469
- ExAC rs563614469
- TOPMed rs563614469
- gnomAD rs563614469
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available