A626T (p.Ala626Thr) variant of ABCD1 (P33897)
A626T (p.Ala626Thr) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A626T (p.Ala626Thr) variant details
- p.Ala626Thr
- rs1557055316
- ClinGen CA415116649
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV000699538
- Pathogenic/Likely pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.88
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (PMID 21700483)
- Cited in: Altered expression of ALDP in X-linked adrenoleukodystrophy. (PMID 7668254)