FPR1 p.Gln306=
c.918G>A · rs1253740709 · VCV2876451
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Conditions
1
gingival disorder
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 -0.23 | GERP -3.8 |
| Overall | ||
| CADD | 0.911 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,052 alleles
Overall
6.19e-05%
1/1,614,212 alleles · very rare
exomes 1/1,461,892 · genomes 0/152,320 · joint denominator
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
- FPR1
- Protein
- p.Gln306=
- Coding
- c.918G>A
- MANE Select
- NM_002029
- dbSNP
- rs1253740709
- Type
- single nucleotide variant
- Location
- chr19:51746077 (GRCh38)
- Gene constraint
- LOEUF 1.921 · pLI 0.13 (gnomAD)
- Structure
- AlphaFold pLDDT 84.17 · 5 PDB
- Residue 306
- an α-helix
Similar variants
- FPR1 p.Ala225Val Uncertain significance ★★ ⚠ same condition
- FPR1 p.Ala315Thr Uncertain significance ★★ ⚠ same condition
- FPR1 p.Ile146Val Uncertain significance ★★ ⚠ same condition
- FPR1 p.Ile147Thr Uncertain significance ★★ ⚠ same condition
- FPR1 p.Ile216Val Uncertain significance ★★ ⚠ same condition
- FPR1 p.Ile228Phe Uncertain significance ★★ ⚠ same condition
- FPR1 p.Met197Ile Uncertain significance ★★ ⚠ same condition
- FPR1 p.Met275Thr 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/fpr1-p-gln306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown