R389H (p.Arg389His) variant of ABCD1 (P33897)
R389H (p.Arg389His) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCD1-related disorder; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R389H (p.Arg389His) variant details
- p.Arg389His
- rs886044777
- ClinGen CA10603846
- ClinVar RCV000268436
- ClinVar RCV000984141
- Pathogenic/Likely pathogenic
- ABCD1-related disorder; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.61
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (ABCD1-related disorder; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. (PMID 10551832)
- Cited in: Mutational analysis of patients with X-linked adrenoleukodystrophy. (PMID 7581394)