R617H (p.Arg617His) variant of ABCD1 (P33897)
R617H (p.Arg617His) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
R617H (p.Arg617His) variant details
- p.Arg617His
- rs11146842
- ClinGen CA278116
- ClinVar RCV000012064
- ClinVar RCV000723904
- Pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available
- Cited in: X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (PMID 21700483)
- Cited in: Mutational analysis of patients with X-linked adrenoleukodystrophy. (PMID 7581394)