G277W (p.Gly277Trp) variant of ABCD1 (P33897)
G277W (p.Gly277Trp) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G277W (p.Gly277Trp) variant details
- p.Gly277Trp
- rs1603232195
- ClinGen CA415100091
- ClinVar RCV001553605
- ClinVar RCV003487477
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.98
- CADD 31.00
- 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: Mutational analysis of patients with X-linked adrenoleukodystrophy. (PMID 7581394)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)