R104C (p.Arg104Cys) variant of ABCD1 (P33897)
R104C (p.Arg104Cys) 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 0.96 / 1. The record also includes published literature and structural context.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- rs2148388971
- ClinGen CA415098594
- ClinVar RCV001878403
- ClinVar RCV002463049
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Mutational analysis of patients with X-linked adrenoleukodystrophy. (PMID 7581394)
- Cited in: Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. (PMID 7825602)