Y174C (p.Tyr174Cys) variant of ABCD1 (P33897)
Y174C (p.Tyr174Cys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 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.
Y174C (p.Tyr174Cys) variant details
- p.Tyr174Cys
- rs1557052390
- ClinGen CA415099025
- ClinVar RCV000536329
- ClinVar RCV001783036
- Pathogenic
- not provided; 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 (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. (PMID 10737980)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)