E302G (p.Glu302Gly) variant of ABCD1 (P33897)
E302G (p.Glu302Gly) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
E302G (p.Glu302Gly) variant details
- p.Glu302Gly
- rs2091726251
- ClinGen CA415100517
- ClinVar RCV001327376
- ClinVar RCV005911063
- Conflicting interpretations
- not specified; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Conflicting classifications of pathogenicity (not specified; Adrenoleukodystrophy)
- EBI: Likely pathogenic (in ALD)
- UniProt: Likely pathogenic (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)