CELF5 p.Phe443=
c.1329C>T · VCV4225206
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.042 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP -0.43, phastCons 1 |
| Overall | ||
| CADD | 18.59 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,082 alleles
Filtering AF
0.000124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9e-05%
Overall
0.000434%
7/1,612,896 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,082 |
| South Asian | 0.0011% | 91,054 |
| European (non-Finnish) | 0.000424% | 235,848 |
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
- CELF5
- Protein
- p.Phe443=
- Coding
- c.1329C>T
- MANE Select
- NM_021938
- Type
- single nucleotide variant
- Location
- chr19:3290373 (GRCh38)
- Gene constraint
- LOEUF 0.248 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.74 · 1 PDB
- Residue 443
- the rrm 3 domain
Similar variants
- CELF5 p.Gln364Pro Uncertain significance ★★ ⚠ same type
- CELF5 p.Ala309Thr Uncertain significance ★ ⚠ same type
- CELF5 p.Ala373Val Uncertain significance ★ ⚠ same type
- CELF5 p.Arg117Trp Uncertain significance ★ ⚠ same type
- CELF5 p.Arg129His Uncertain significance ★ ⚠ same type
- CELF5 p.Arg218Leu Uncertain significance ★ ⚠ same type
- CELF5 p.Gln12Arg Uncertain significance ★ ⚠ same type
- CELF5 p.Gln13Leu 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/celf5-p-phe443 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown