ABCD1 p.Val183fs
c.542_545dup · VCV3724886
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
adrenoleukodystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCD1
- Protein
- p.Val183fs
- Coding
- c.542_545dup
- MANE Select
- NM_000033
- Type
- Duplication
- Location
- chrX:153725807 (GRCh38)
- Structure
- AlphaFold pLDDT 81.58 · 14 PDB
- Residue 183
- an α-helix; the abc transmembrane type-1 domain; the 'interaction with pex19' region
Disease context
adrenoleukodystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor X-linked adrenoleukodystrophy (Orphanet):
- Inheritance
- X-linked dominant
- Onset
- Adolescent, Adult, Childhood, Elderly
- Prevalence
- 1-9 / 1 000 000 (Israel)
Similar variants
- ABCD1 p.Val183= Likely benign ★ same residue
- ABCD1 p.Arg80_Leu82dup Pathogenic ★★ same condition
- ABCD1 p.Arg85fs Pathogenic ★★ same condition
- ABCD1 p.Arg8fs Likely pathogenic ★★ same condition
- ABCD1 p.Asn13fs Pathogenic ★★ same condition
- ABCD1 p.Glu359fs Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 p.Thr483fs Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 p.Ala443fs Pathogenic ★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/abcd1-p-val183fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown