R591P (p.Arg591Pro) variant of ABCD1 (P33897)
R591P (p.Arg591Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R591P (p.Arg591Pro) variant details
- p.Arg591Pro
- rs1557054873
- ClinGen CA415113350
- ClinVar RCV003513723
- UniProt VAR 013354
- Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.72
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.34
- ClinVar: Likely pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PMID 11748843)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)