R418Q (p.Arg418Gln) variant of ABCD1 (P33897)
R418Q (p.Arg418Gln) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R418Q (p.Arg418Gln) variant details
- p.Arg418Gln
- rs1046633404
- ClinGen CA337239971
- ClinVar RCV001058584
- ClinVar RCV003396696
- Conflicting interpretations
- not specified; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.95
- AlphaMissense 0.69
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)