R554C (p.Arg554Cys) variant of ABCD1 (P33897)
R554C (p.Arg554Cys) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R554C (p.Arg554Cys) variant details
- p.Arg554Cys
- rs398123104
- ClinGen CA10550291
- ClinVar RCV002760386
- ClinVar RCV004753579
- Conflicting interpretations
- Inborn genetic diseases; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.89
- AlphaMissense 0.72
- MetaLR 0.91
- MetaSVM 1.02
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Adrenoleukodystrophy)
- EBI: Likely pathogenic (in ALD)
- UniProt: Likely pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)