R418W (p.Arg418Trp) variant of ABCD1 (P33897)
R418W (p.Arg418Trp) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R418W (p.Arg418Trp) variant details
- p.Arg418Trp
- rs128624220
- ClinGen CA278107
- ClinVar RCV000012053
- ClinVar RCV000518515
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.94
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. (PMID 10737980)
- Cited in: Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. (PMID 10980539)