CELF4 p.Ala300=
c.900G>A · rs766190775 · VCV2648684
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0185%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -9.6 | GERP -4.7 |
| Overall | ||
| CADD | 12.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0185%
Middle Eastern · 1/5,414 alleles
Filtering AF
0.000878%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000718%
Overall
0.00118%
19/1,612,760 alleles · ultra-rare
exomes 17/1,460,396 · genomes 2/152,364 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0185% | 5,414 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,442 |
| European (non-Finnish) | 0.00144% | 69,406 |
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.Ala300=
- Coding
- c.900G>A
- MANE Select
- NM_020180
- dbSNP
- rs766190775
- Type
- single nucleotide variant
- Location
- chr18:37273065 (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.Gly193Val Uncertain significance ★★ ⚠ same type
- CELF4 p.Ala381= Benign/Likely benign ★★ 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-ala300 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown