Is FPR1 p.Pro182= (c.546C>A) pathogenic?

FPR1 p.Pro182= (c.546C>A) is classified Benign in FPR1 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-02-04). Common (popmax 47.8%, eas) — too common for a highly-penetrant pathogenic allele; Associated with gingival disorder.

What condition is associated with FPR1 p.Pro182= (c.546C>A)?

FPR1 p.Pro182= (c.546C>A) is associated with gingival disorder (ClinVar).

FPR1 p.Pro182=

Q: How common is FPR1 p.Pro182= (c.546C>A) in the general population?

FPR1 p.Pro182= (c.546C>A) is common (popmax 47.8%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.546C>A · rs2070746 · VCV402877

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Common

common (popmax 47.8%, eas) — too common for a highly-penetrant pathogenic allele

Conditions

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 -1.3	GERP -0.11
Overall
CADD	1.789	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 47.8% East Asian · 21,451/44,832 alleles

Filtering AF 47.3% ClinGen BA1/BS1 input FAF95, joint · FAF99 47.1%

Overall 30% 484,008/1,613,844 alleles · common exomes 437,211/1,461,864 · genomes 46,797/151,980 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	47.8%	2
Admixed American	46.6%	2
Ashkenazi Jewishnot grpmax-eligible	33.6%	3
South Asian	32.5%	3
African / African-American	30.1%	3
Remaining individualsnot grpmax-eligible	29.2%	3
Finnishnot grpmax-eligible	28.9%	3
European (non-Finnish)	28.3%	4
Middle Eastern	23.2%	4
Amishnot grpmax-eligible	18%	6

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.Pro182=
Coding: c.546C>A
MANE Select: NM_002029
dbSNP: rs2070746
Type: single nucleotide variant
Location: chr19:51746449 (GRCh38)
Gene constraint: LOEUF 1.921 · pLI 0.13 (gnomAD)
Structure: AlphaFold pLDDT 84.17 · 5 PDB

Full FPR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

gingival disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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-pro182 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown