A141T (p.Ala141Thr) variant of ABCD1 (P33897)
A141T (p.Ala141Thr) 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 0.70 / 1. The record also includes published literature and structural context.
A141T (p.Ala141Thr) variant details
- p.Ala141Thr
- rs193922097
- ClinGen CA278381
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV000029289
- Pathogenic
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.23
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.29
- ClinVar: Pathogenic (not provided; Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Mutational analysis of patients with X-linked adrenoleukodystrophy. (PMID 7581394)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)