K533Q (p.Lys533Gln) variant of ABCD1 (P33897)
K533Q (p.Lys533Gln) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K533Q (p.Lys533Gln) variant details
- p.Lys533Gln
- rs781862879
- ClinGen CA10550260
- ClinVar RCV000761217
- ClinVar RCV002397532
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.78
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00038)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)