PTGS2 p.Glu366=
c.1098A>G · rs147906320 · VCV749381
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.233%, sas)
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 0.44 | phastCons 0.99 |
| Overall | ||
| CADD | 8.425 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.233%
South Asian · 212/91,080 alleles
Filtering AF
0.207%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.197%
Overall
0.034%
549/1,614,152 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.233% | 430 |
| European (non-Finnish) | 0.0271% | 3,688 |
| Remaining individualsnot grpmax-eligible | 0.0192% | 5,209 |
| Admixed American | 0.005% | 20,008 |
| East Asian | 0.00223% | 44,862 |
| African / African-American | 0.00133% | 75,046 |
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
- PTGS2
- Protein
- p.Glu366=
- Coding
- c.1098A>G
- MANE Select
- NM_000963
- dbSNP
- rs147906320
- Type
- single nucleotide variant
- Location
- chr1:186676057 (GRCh38)
- Gene constraint
- LOEUF 0.33 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 93.37 · 7 PDB
- Residue 366
- an α-helix
Similar variants
- PTGS2 p.Arg585= Benign ★★ same type
- PTGS2 p.Asp300= Benign ★★ same type
- PTGS2 p.His403= Benign ★★ same type
- PTGS2 p.Ala436Ser Uncertain significance ★ ⚠ same type
- PTGS2 p.Ala475Thr Uncertain significance ★ ⚠ same type
- PTGS2 p.Ala529Ser Uncertain significance ★ ⚠ same type
- PTGS2 p.Ala529Val Uncertain significance ★ ⚠ same type
- PTGS2 p.Ala581Gly 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/ptgs2-p-glu366 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown