CEL p.Ala327Thr
c.979G>A · rs751119069 · VCV434690
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, sas)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.23 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.36 | GERP -1.1, phastCons 0.001 |
| Regional constraint | o/e 0.22 | constrained · MANE · 158 bp · p 2.1e-12 · regional, not allelic |
| Overall | ||
| CADD | 6.638 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
South Asian · 12/89,230 alleles
Filtering AF
0.00775%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00604%
Overall
0.00225%
36/1,600,902 alleles · ultra-rare
exomes 34/1,451,422 · genomes 2/149,480 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0134% | 7,436 |
| East Asian | 0.0113% | 8,864 |
| Admixed American | 0.00338% | 29,604 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 61,954 |
| African / African-American | 0.00138% | 72,596 |
| European (non-Finnish) | 0.00128% | 78,265 |
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.Ala327Thr
- Coding
- c.979G>A
- MANE Select
- NM_001807
- dbSNP
- rs751119069
- Type
- single nucleotide variant
- Location
- chr9:133068755 (GRCh38)
- Gene constraint
- LOEUF 0.972 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.10 · 7 PDB
- Residue 327
- an α-helix
Similar variants
- CEL p.Ala295Ser Uncertain significance ★★ same condition
- CEL p.Ala548Glu Uncertain significance ★★ same condition
- CEL p.Arg185Trp Uncertain significance ★★ same condition
- CEL p.Arg443Trp Uncertain significance ★★ same condition
- CEL p.Gln460Arg Uncertain significance ★★ same condition
- CEL p.Glu710Lys Uncertain significance ★★ same condition
- CEL p.Gly147Ser Uncertain significance ★★ same condition
- CEL p.His68Leu Uncertain significance ★★ same condition
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-ala327thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown