A54G (p.Ala54Gly) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A54G (p.Ala54Gly) in KRT6A (Keratin, type II cytoskeletal 6A) 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.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- TOPMed rs1232527188
- gnomAD rs1232527188
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available