R518W (p.Arg518Trp) variant of ABCD1 (P33897)
R518W (p.Arg518Trp) 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 0.98 / 1. The record also includes published literature and structural context.
R518W (p.Arg518Trp) variant details
- p.Arg518Trp
- rs128624224
- ClinGen CA278115
- ClinVar RCV000012059
- ClinVar RCV000723537
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy… (PMID 20661612)
- Cited in: Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. (PMID 8040304)