G510S (p.Gly510Ser) variant of ABCD1 (P33897)
G510S (p.Gly510Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adrenoleukodystrophy. The record also includes published literature and structural context.
G510S (p.Gly510Ser) variant details
- p.Gly510Ser
- rs2522297087
- ClinGen CA415111119
- ClinVar RCV002470648
- Likely pathogenic
- Adrenoleukodystrophy
- Missense
- ClinVar: Likely pathogenic (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)