R389C (p.Arg389Cys) variant of ABCD1 (P33897)
R389C (p.Arg389Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R389C (p.Arg389Cys) variant details
- p.Arg389Cys
- rs128624215
- ClinGen CA337239849
- ClinVar RCV000761215
- ClinVar RCV004588164
- Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.89
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.74
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)