CELF4 p.Ala381=
c.1143C>T · rs145042940 · VCV718289
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.364%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.29 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -9.7 | GERP -4.1 |
| Overall | ||
| CADD | 1.234 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.364%
European (non-Finnish) · 4,275/1,173,376 alleles
Filtering AF
0.355%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.351%
Overall
0.287%
4,590/1,597,166 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.364% | 274 |
| Remaining individualsnot grpmax-eligible | 0.265% | 377 |
| Ashkenazi Jewishnot grpmax-eligible | 0.127% | 790 |
| Middle Eastern | 0.076% | 1,316 |
| Admixed American | 0.0757% | 1,322 |
| African / African-American | 0.0667% | 1,499 |
| South Asian | 0.0126% | 7,963 |
| East Asian | 0.00678% | 14,747 |
| Finnishnot grpmax-eligible | 0.00477% | 20,955 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CELF4
- Protein
- p.Ala381=
- Coding
- c.1143C>T
- MANE Select
- NM_020180
- dbSNP
- rs145042940
- Type
- single nucleotide variant
- Location
- chr18:37266555 (GRCh38)
- Gene constraint
- LOEUF 0.546 · pLI 0.84 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.70 · 2 PDB
Similar variants
- CELF4 p.Ala381Thr Uncertain significance ★ ⚠ same residue
- CELF4 p.Gly193Val Uncertain significance ★★ ⚠ same type
- CELF4 p.Pro127= Benign ★★ same type
- CELF4 p.Pro406= Benign ★★ same type
- CELF4 p.Glu76Ter Pathogenic ★ same type
- CELF4 c.1165+2T>C Uncertain significance ★ same type
- CELF4 c.370-67640C>A Uncertain significance ★ same type
- CELF4 c.577+2T>G Uncertain significance ★ 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-ala381 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown