ABCD1 p.Gln430fs
c.1287del · rs2522289139 · VCV2029120
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 4 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.5 | GERP 1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ABCD1
- Protein
- p.Gln430fs
- Coding
- c.1287del
- MANE Select
- NM_000033
- dbSNP
- rs2522289139
- Type
- Deletion
- Location
- chrX:153736406 (GRCh38)
- Structure
- AlphaFold pLDDT 81.58 · 14 PDB
- Residue 430
- a turn
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.Gln430Ter Pathogenic ★★ same residue
- ABCD1 p.Gln430= 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
- ABCD1 p.Gln645fs Pathogenic/Likely 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-gln430fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown