G512R (p.Gly512Arg) variant of ABCD1 (P33897)
G512R (p.Gly512Arg) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of ABCD1-related disorder; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G512R (p.Gly512Arg) variant details
- p.Gly512Arg
- rs1569541088
- ClinGen CA415111151
- ClinVar RCV001057299
- ClinVar RCV003396694
- Conflicting interpretations
- ABCD1-related disorder; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Conflicting classifications of pathogenicity (ABCD1-related disorder; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)