NLRP14 p.Thr191=
c.573C>T · rs143266232 · VCV3058966
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.114%, eas)
Conditions
1
NLRP14-related 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 -6.6 | GERP -4 |
| Overall | ||
| CADD | 0.848 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.114%
East Asian · 51/44,886 alleles
Filtering AF
0.0887%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0799%
Overall
0.00458%
74/1,614,222 alleles · rare
exomes 62/1,461,884 · genomes 12/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.114% | 880 |
| Remaining individualsnot grpmax-eligible | 0.0288% | 3,473 |
| Admixed American | 0.00333% | 30,014 |
| African / African-American | 0.00133% | 75,062 |
| European (non-Finnish) | 0.000169% | 590,019 |
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.Thr191=
- Coding
- c.573C>T
- MANE Select
- NM_176822
- dbSNP
- rs143266232
- Type
- single nucleotide variant
- Location
- chr11:7042599 (GRCh38)
- Gene constraint
- LOEUF 1.179 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.47 · 4 PDB
- Residue 191
- the nacht domain
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.Gln484= Likely benign same condition
- NLRP14 p.Glu21Lys Likely benign same condition
- NLRP14 p.Gly242Asp 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-thr191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown