R591W (p.Arg591Trp) variant of ABCD1 (P33897)
R591W (p.Arg591Trp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R591W (p.Arg591Trp) variant details
- p.Arg591Trp
- rs398123106
- ClinGen CA278409
- ClinVar RCV000498217
- ClinVar RCV000808514
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.88
- AlphaMissense 0.09
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked… (PMID 10190819)
- Cited in: Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of… (PMID 21966424)