ABCD1 p.Ala238fs
c.712del · VCV4710858
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 -0.9 | GERP -3.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCD1
- Protein
- p.Ala238fs
- Coding
- c.712del
- MANE Select
- NM_000033
- Type
- Deletion
- Location
- chrX:153725978 (GRCh38)
- Structure
- AlphaFold pLDDT 81.58 · 14 PDB
- Residue 238
- a β-strand; the abc transmembrane type-1 domain
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.Ala238Thr Uncertain significance ★★ ⚠ same residue
- ABCD1 p.Ala238Ser Uncertain significance ★ ⚠ same residue
- ABCD1 p.Ala238= Likely benign ★ same residue
- ABCD1 c.1394-2_1404del Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 c.901-48_909del Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 p.Ala241fs Pathogenic ★★ same condition
- ABCD1 p.Arg80_Leu82del Pathogenic/Likely pathogenic ★★ same condition
- ABCD1 p.Gln472fs 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-ala238fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown