Q611H (p.Gln611His) variant of ABCD1 (P33897)
Q611H (p.Gln611His) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenoleukodystrophy; Inborn genetic diseases. The record also includes structural context.
Q611H (p.Gln611His) variant details
- p.Gln611His
- gnomAD rs1557055262
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy; Inborn genetic diseases
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy; Inborn genetic diseases)
- UniProt: Likely pathogenic
- Structural context available