R189Q (p.Arg189Gln) variant of ABCD1 (P33897)
R189Q (p.Arg189Gln) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy; not provided. 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.
R189Q (p.Arg189Gln) variant details
- p.Arg189Gln
- rs1557052417
- ClinGen CA415099129
- ClinVar RCV003050668
- ClinVar RCV003138473
- Conflicting interpretations
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.96
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy; not provided)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)