A104S (p.Ala104Ser) variant of CHM (P24386)
A104S (p.Ala104Ser) in CHM (P24386) 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.
A104S (p.Ala104Ser) variant details
- p.Ala104Ser
- TOPMed rs1931429516
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available