R660Q (p.Arg660Gln) variant of ABCD1 (P33897)
R660Q (p.Arg660Gln) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R660Q (p.Arg660Gln) variant details
- p.Arg660Gln
- rs1557055340
- ClinGen CA415117801
- ClinVar RCV000778893
- ClinVar RCV003457795
- Conflicting interpretations
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.91
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available
- Cited in: Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. (PMID 21889498)
- Cited in: Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of… (PMID 21966424)