CABP4 p.Ala86fs
c.256del · VCV3769566
Likely pathogenic
Multiple submitters
Classification
Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
CABP4-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -4.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CABP4
- Protein
- p.Ala86fs
- Coding
- c.256del
- MANE Select
- NM_145200
- Type
- Deletion
- Location
- chr11:67455679 (GRCh38)
- Gene constraint
- LOEUF 1.345 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 65.01
- Residue 86
- the 'disordered' region
Disease context
CABP4-related disorder
Also linked: cone-rod synaptic disorder, congenital nonprogressive
Similar variants
- CABP4 p.Arg124fs Pathogenic/Likely pathogenic ★★ same condition
- CABP4 p.Pro22fs Pathogenic/Likely pathogenic ★★ same condition
- CABP4 p.Ala86Thr Uncertain significance ★ ⚠ same residue
- CABP4 c.366+1G>T Pathogenic/Likely pathogenic ★★ same condition
- CABP4 c.800_801delAG Pathogenic/Likely pathogenic ★★ same condition
- CABP4 p.Arg209Ter Pathogenic/Likely pathogenic ★★ same condition
- CABP4 p.Arg216Ter Pathogenic ★★ same condition
- CABP4 p.Arg225Ter 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/cabp4-p-ala86fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown