NLRP14 p.Leu16=
c.48A>G · rs138272571 · VCV3048967
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.78%, 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 -9 | GERP -4 |
| Overall | ||
| CADD | 0.147 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.78%
East Asian · 800/44,870 alleles
Filtering AF
1.68%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.64%
Overall
0.0555%
896/1,614,010 alleles · low-frequency
exomes 816/1,461,824 · genomes 80/152,186 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.78% | 56 |
| Remaining individualsnot grpmax-eligible | 0.0736% | 1,358 |
| South Asian | 0.0307% | 3,253 |
| Admixed American | 0.00333% | 30,009 |
| European (non-Finnish) | 0.00169% | 58,999 |
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.Leu16=
- Coding
- c.48A>G
- MANE Select
- NM_176822
- dbSNP
- rs138272571
- Type
- single nucleotide variant
- Location
- chr11:7038634 (GRCh38)
- Gene constraint
- LOEUF 1.179 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.47 · 4 PDB
- Residue 16
- the pyrin domain; an α-helix
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-leu16 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown