APOA5 p.Glu196fs
c.586_592del · VCV4773833
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 3.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- APOA5
- Protein
- p.Glu196fs
- Coding
- c.586_592del
- MANE Select
- NM_001371904
- Type
- Deletion
- Location
- chr11:116790637 (GRCh38)
- Gene constraint
- LOEUF 1.146 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.38
Similar variants
- APOA5 p.Glu196Lys Uncertain significance ★ ⚠ same residue
- APOA5 p.Arg40fs Likely pathogenic ★ same type
- APOA5 p.Ile303fs Likely pathogenic ★ same type
- APOA5 p.Pro318fs Likely pathogenic ★ same type
- APOA5 p.Tyr194fs Pathogenic ★ same type
- APOA5 p.Arg143fs Conflicting classifications of pathogenicity ★ same type
- APOA5 p.Asp37fs Conflicting classifications of pathogenicity ★ same type
- APOA5 p.His182fs Conflicting classifications of pathogenicity ★ same type
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/apoa5-p-glu196fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown