CELF2 p.Val21Ile
c.61G>A · VCV3368506
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,522,822)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.154 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 9.1 | GERP 0.038, phastCons 1 |
| Regional constraint | o/e 1.13 | unconstrained · MANE · 147 kb · p 0.41 · regional, not allelic |
| Overall | ||
| CADD | 23.5 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,522,822). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CELF2
- Protein
- p.Val21Ile
- Coding
- c.61G>A
- MANE Select
- NM_001326342
- Type
- single nucleotide variant
- Location
- chr10:11018150 (GRCh38)
- Gene constraint
- LOEUF 0.294 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 66.26 · 7 PDB
- Residue 21
- the 'necessary for rna-binding, tnnt2 exon 5 and nmda r1 exon 21 inclusion' region
Similar variants
- CELF2 p.Arg506Cys Pathogenic/Likely pathogenic ★★ same type
- CELF2 p.Arg513His Likely pathogenic ★★ same type
- CELF2 p.Gln237Ter Pathogenic/Likely pathogenic ★★ same type
- CELF2 p.Ala135Thr Uncertain significance ★★ ⚠ same type
- CELF2 p.Val95Leu Uncertain significance ★★ ⚠ same type
- CELF2 p.Arg506His Pathogenic ★ same type
- CELF2 p.Arg506Leu Pathogenic ★ same type
- CELF2 p.Arg513Cys Likely pathogenic ★ 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/celf2-p-val21ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown