Is NLRP14 p.Gln484= (c.1452G>A) pathogenic?

NLRP14 p.Gln484= (c.1452G>A) is classified Likely benign in NLRP14 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-02-28). Rare (popmax 0.356%, nfe); Associated with NLRP14-related disorder.

What condition is associated with NLRP14 p.Gln484= (c.1452G>A)?

NLRP14 p.Gln484= (c.1452G>A) is associated with NLRP14-related disorder (ClinVar).

How common is NLRP14 p.Gln484= (c.1452G>A) in the general population?

NLRP14 p.Gln484= (c.1452G>A) is rare (popmax 0.356%, nfe) (gnomAD).

NLRP14 p.Gln484=

c.1452G>A · rs150306147 · VCV3044246

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.356%, nfe)

Conditions

NLRP14-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 1.9	GERP -0.78, phastCons 1
Overall
CADD	5.075	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.356% European (non-Finnish) · 4,203/1,180,036 alleles

Filtering AF 0.347% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.343%

Overall 0.307% 4,949/1,614,168 alleles · rare exomes 4,611/1,461,882 · genomes 338/152,286 · joint denominator

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	0.562%	178
European (non-Finnish)grpmax	0.356%	281
Remaining individualsnot grpmax-eligible	0.269%	372
South Asian	0.127%	785
Middle Eastern	0.115%	866
Admixed American	0.0983%	1,017
African / African-American	0.048%	2,084

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: NLRP14
Protein: p.Gln484=
Coding: c.1452G>A
MANE Select: NM_176822
dbSNP: rs150306147
Type: single nucleotide variant
Location: chr11:7043478 (GRCh38)
Gene constraint: LOEUF 1.179 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.47 · 4 PDB
Residue 484: the nacht domain

Full NLRP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

NLRP14-related disorder

Similar variants

NLRP14 c.1958+6T>C Likely benign same condition
NLRP14 p.Ala432= Benign same condition
NLRP14 p.Asp12= Likely benign same condition
NLRP14 p.Asp3Gly Benign same condition
NLRP14 p.Cys750Tyr Likely benign same condition
NLRP14 p.Glu21Lys Likely benign same condition
NLRP14 p.Gly242Asp Benign same condition
NLRP14 p.Leu16= Benign 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/nlrp14-p-gln484 (accessed [today's date]).

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