A141V (p.Ala141Val) variant of ABCD1 (P33897)
A141V (p.Ala141Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
A141V (p.Ala141Val) variant details
- p.Ala141Val
- rs1603231911
- ClinGen CA415098825
- ClinVar RCV000853228
- ClinVar RCV003327470
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy; not provided)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)