S34P (p.Ser34Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
S34P (p.Ser34Pro) in KRT4 (Keratin, type II cytoskeletal 4) 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.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- TOPMed rs1939962030
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available