R401W (p.Arg401Trp) variant of ABCD1 (P33897)
R401W (p.Arg401Trp) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R401W (p.Arg401Trp) variant details
- p.Arg401Trp
- rs727503786
- ClinGen CA415105485
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV000578153
- Pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.10
- CADD 24.30
- PolyPhen-2 1.00
- ClinVar: 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: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. (PMID 10737980)