R285H (p.Arg285His) variant of ABCD1 (P33897)
R285H (p.Arg285His) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy; not specified; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R285H (p.Arg285His) variant details
- p.Arg285His
- rs782635828
- ClinGen CA10550027
- ClinVar RCV000850212
- ClinVar RCV002051891
- Conflicting interpretations
- Adrenoleukodystrophy; not specified; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.91
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy; not specified; Intellectual disability)
- EBI: Likely pathogenic (in ALD)
- UniProt: Likely pathogenic (in ALD)
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)