CELF4 p.Leu86fs
c.257_270del · VCV3899638
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 | predicted | premature termination codon in exon 1 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CELF4
- Protein
- p.Leu86fs
- Coding
- c.257_270del
- MANE Select
- NM_020180
- Type
- Deletion
- Location
- chr18:37565372 (GRCh38)
- Gene constraint
- LOEUF 0.546 · pLI 0.84 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.70 · 2 PDB
- Residue 86
- the rrm 1 domain; the 'sufficient for rna-binding and mse-dependent splicing activity' region
Similar variants
- CELF4 c.287-5_300del Uncertain significance ★ same type
- CELF4 p.Gln401fs Uncertain significance ★ same type
- CELF4 p.Lys234fs Uncertain significance ★ same type
- CELF4 p.Pro321fs Uncertain significance ★ same type
- CELF4 p.Pro346fs 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/celf4-p-leu86fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown