R163H (p.Arg163His) variant of ABCD1 (P33897)
R163H (p.Arg163His) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R163H (p.Arg163His) variant details
- p.Arg163His
- rs1057517954
- ClinGen CA16043184
- ClinVar RCV000414525
- ClinVar RCV000699535
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. (PMID 7825602)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)