L493H (p.Leu493His) variant of ABCD1 (P33897)
L493H (p.Leu493His) 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.
L493H (p.Leu493His) variant details
- p.Leu493His
- rs2522291808
- ClinGen CA415108810
- ClinVar RCV003512999
- ClinVar RCV005054460
- Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- ClinVar: Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)