S39C (p.Ser39Cys) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S39C (p.Ser39Cys) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
S39C (p.Ser39Cys) variant details
- p.Ser39Cys
- TOPMed rs1940414530
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available