R285C (p.Arg285Cys) variant of ABCD1 (P33897)
R285C (p.Arg285Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R285C (p.Arg285Cys) variant details
- p.Arg285Cys
- rs782334088
- ClinGen CA337234807
- ClinVar RCV000755767
- ClinVar RCV002536555
- Conflicting interpretations
- Inborn genetic diseases; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.89
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 1.09
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the 1KG:JPT population (allele frequency 0.0068)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)