E291D (p.Glu291Asp) variant of ABCD1 (P33897)
E291D (p.Glu291Asp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 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.
E291D (p.Glu291Asp) variant details
- p.Glu291Asp
- rs2148389975
- ClinGen CA415100275
- ClinVar RCV001379121
- ClinVar RCV001780291
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.89
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: Altered expression of ALDP in X-linked adrenoleukodystrophy. (PMID 7668254)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)