G512S (p.Gly512Ser) variant of ABCD1 (P33897)
G512S (p.Gly512Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCD1-related disorder; not provided; 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.
G512S (p.Gly512Ser) variant details
- p.Gly512Ser
- rs1569541088
- ClinGen CA415111153
- NCI-TCGA Cosmic COSV9949
- ClinVar RCV000710055
- Pathogenic/Likely pathogenic
- ABCD1-related disorder; not provided; 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: Pathogenic/Likely pathogenic (ABCD1-related disorder; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette… (PMID 11248239)
- Cited in: Molecular analysis of X-linked adrenoleukodystrophy patients. (PMID 7561948)