NLRP14 p.Phe166=
c.498C>T · rs7123944 · VCV1281086
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 100%, eas) — too common for a highly-penetrant pathogenic allele
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 -0.66 | GERP -4, phastCons 0.069 |
| Overall | ||
| CADD | 1.735 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
100%
East Asian · 44,886/44,886 alleles
Filtering AF
99.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 99.6%
Overall
99.2%
1,600,861/1,614,244 alleles · common
exomes 1,454,379/1,461,876 · genomes 146,482/152,368 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 100% | 1 |
| Finnishnot grpmax-eligible | 100% | 1 |
| Amishnot grpmax-eligible | 100% | 1 |
| South Asian | 100% | 1 |
| European (non-Finnish) | 99.9% | 1 |
| Middle Eastern | 98.9% | 1 |
| Remaining individualsnot grpmax-eligible | 98.9% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 98.7% | 1 |
| Admixed American | 98.6% | 1 |
| African / African-American | 87% | 1 |
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.Phe166=
- Coding
- c.498C>T
- MANE Select
- NM_176822
- dbSNP
- rs7123944
- Type
- single nucleotide variant
- Location
- chr11:7042524 (GRCh38)
- Gene constraint
- LOEUF 1.179 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.47 · 4 PDB
Similar variants
- RBMXL2 p.Asp128Val Uncertain significance ★★ ⚠ same type
- NLRP14 c.1958+74C>A Benign ★★ same type
- NLRP14 c.2124-36G>A Benign ★★ same type
- NLRP14 c.2292-104A>C Benign ★★ same type
- NLRP14 c.3146+85C>A Benign ★★ same type
- NLRP14 c.361+46T>G Benign ★★ same type
- NLRP14 c.-21-48T>A Benign ★★ same type
- NLRP14 p.Ala432Ser Benign ★★ same type
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-phe166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown