A69S (p.Ala69Ser) variant of ATL1 (Atlastin-1)
A69S (p.Ala69Ser) in ATL1 (Atlastin-1) 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.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- TOPMed rs2039119322
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available