T632I (p.Thr632Ile) variant of ABCD1 (P33897)
T632I (p.Thr632Ile) 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.
T632I (p.Thr632Ile) variant details
- p.Thr632Ile
- rs1064793877
- ClinGen CA16621227
- ClinVar RCV000480881
- ClinVar RCV000853230
- Pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- 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: ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PMID 11748843)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)