Y174S (p.Tyr174Ser) variant of ABCD1 (P33897)
Y174S (p.Tyr174Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
Y174S (p.Tyr174Ser) variant details
- p.Tyr174Ser
- rs1557052390
- ClinGen CA415099024
- ClinVar RCV000850177
- UniProt VAR 000040
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.92
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene. (PMID 28456143)
- Cited in: De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. (PMID 7860075)