S45C (p.Ser45Cys) variant of KRT12 (Keratin, type I cytoskeletal 12)
S45C (p.Ser45Cys) in KRT12 (Keratin, type I cytoskeletal 12) 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.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- TOPMed rs1907057490
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available