R518Q (p.Arg518Gln) variant of ABCD1 (P33897)
R518Q (p.Arg518Gln) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R518Q (p.Arg518Gln) variant details
- p.Arg518Gln
- rs398123102
- ClinGen CA278403
- ClinVar RCV000077955
- ClinVar RCV000723540
- Pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.94
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked… (PMID 10190819)
- Cited in: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first… (PMID 11438993)