CEL p.Asn322Ser
c.965A>G · rs371275291 · VCV789781
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.72%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.162 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.25 | acceptor gain · deltas |
| Constraint at this position | ||
| Conservation | phyloP 3.6 | GERP -0.45, phastCons 0.92 |
| Regional constraint | o/e 0.22 | constrained · MANE · 158 bp · p 2.1e-12 · regional, not allelic |
| Overall | ||
| CADD | 22.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.72%
African / African-American · 2,719/73,126 alleles
Filtering AF
3.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.55%
Overall
0.187%
3,010/1,606,210 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.72% | 27 |
| Remaining individualsnot grpmax-eligible | 0.243% | 412 |
| Admixed American | 0.154% | 648 |
| Middle Eastern | 0.0997% | 1,003 |
| South Asian | 0.00557% | 17,945 |
| European (non-Finnish) | 0.00314% | 31,813 |
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
- CEL
- Protein
- p.Asn322Ser
- Coding
- c.965A>G
- MANE Select
- NM_001807
- dbSNP
- rs371275291
- Type
- single nucleotide variant
- Location
- chr9:133068741 (GRCh38)
- Gene constraint
- LOEUF 0.972 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.10 · 7 PDB
- Residue 322
- an α-helix
Similar variants
- CEL p.Asn322His Uncertain significance ★ same residue
- CEL c.67-3C>A Uncertain significance ★★ same type
- CEL p.Ala295Ser Uncertain significance ★★ same type
- CEL p.Ala548Glu Uncertain significance ★★ same type
- CEL p.Ala722Val Uncertain significance ★★ same type
- CEL p.Arg116Gln Uncertain significance ★★ same type
- CEL p.Arg185Trp Uncertain significance ★★ same type
- CEL p.Arg443Trp 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/cel-p-asn322ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown