P534T (p.Pro534Thr) variant of ABCD1 (P33897)
P534T (p.Pro534Thr) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Adrenoleukodystrophy. The record also includes published literature and structural context.
P534T (p.Pro534Thr) variant details
- p.Pro534Thr
- rs2522297431
- ClinGen CA415111763
- ClinVar RCV003136703
- ClinVar RCV006629536
- Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- ClinVar: Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Likely pathogenic (in ALD)
- UniProt: Likely pathogenic (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)