R389G (p.Arg389Gly) variant of ABCD1 (P33897)
R389G (p.Arg389Gly) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Adrenoleukodystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R389G (p.Arg389Gly) variant details
- p.Arg389Gly
- rs128624215
- ClinGen CA278102
- ClinVar RCV000012048
- ClinVar RCV003488335
- Pathogenic
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- ClinVar: Pathogenic (Adrenoleukodystrophy; not provided)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. (PMID 8566952)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)