CELF4 p.Pro127=
c.381G>A · rs41352348 · VCV773600
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.499%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.015 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP -4.7 |
| Overall | ||
| CADD | 10.52 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.499%
European (non-Finnish) · 5,890/1,179,404 alleles
Filtering AF
0.489%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.484%
Overall
0.387%
6,247/1,613,058 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.499% | 200 |
| Remaining individualsnot grpmax-eligible | 0.306% | 327 |
| Finnishnot grpmax-eligible | 0.122% | 819 |
| African / African-American | 0.072% | 1,390 |
| Admixed American | 0.0433% | 2,307 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00677% | 14,772 |
| South Asian | 0.0066% | 15,155 |
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.Pro127=
- Coding
- c.381G>A
- MANE Select
- NM_020180
- dbSNP
- rs41352348
- Type
- single nucleotide variant
- Location
- chr18:37321870 (GRCh38)
- Gene constraint
- LOEUF 0.546 · pLI 0.84 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.70 · 2 PDB
- Residue 127
- the rrm 1 domain; the 'sufficient for rna-binding and mse-dependent splicing activity' region; the 'disordered' region
Similar variants
- CELF4 p.Gly193Val Uncertain significance ★★ ⚠ same type
- CELF4 p.Ala381= Benign/Likely 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
- CELF4 c.801+1G>C 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-pro127 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown