L516P (p.Leu516Pro) variant of ABCD1 (P33897)
L516P (p.Leu516Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Adrenoleukodystrophy. The record also includes published literature and structural context.
L516P (p.Leu516Pro) variant details
- p.Leu516Pro
- rs2522297188
- ClinGen CA415111279
- ClinVar RCV002403288
- ClinVar RCV003100714
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Adrenoleukodystrophy
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. (PMID 21889498)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)