T254M (p.Thr254Met) variant of ABCD1 (P33897)
T254M (p.Thr254Met) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T254M (p.Thr254Met) variant details
- p.Thr254Met
- rs1131691743
- ClinGen CA415099842
- ClinVar RCV000493818
- ClinVar RCV000633477
- Pathogenic/Likely pathogenic
- ABCD1-related disorder; not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.95
- AlphaMissense 0.78
- MetaLR 0.92
- MetaSVM 1.08
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (ABCD1-related disorder; not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. (PMID 8566952)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)