A29P (p.Ala29Pro) variant of ABCD1 (P33897)
A29P (p.Ala29Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adrenoleukodystrophy. The record also includes published literature and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- rs2522263080
- ClinGen CA415097484
- ClinVar RCV003625803
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)