R401Q (p.Arg401Gln) variant of ABCD1 (P33897)
R401Q (p.Arg401Gln) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R401Q (p.Arg401Gln) variant details
- p.Arg401Gln
- rs128624219
- ClinGen CA278106
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV000012052
- Pathogenic
- not specified; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (not specified; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. (PMID 10551832)
- Cited in: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. (PMID 10737980)