NLRP14 p.Tyr338=
c.1014T>C · rs116753166 · VCV776580
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 6.14%, afr) — 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 0.54 | GERP 0.81, phastCons 1 |
| Overall | ||
| CADD | 5.072 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.14%
African / African-American · 4,605/75,020 alleles
Filtering AF
5.99%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.93%
Overall
0.337%
5,438/1,614,060 alleles · common
exomes 2,807/1,461,806 · genomes 2,631/152,254 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.14% | 16 |
| Remaining individualsnot grpmax-eligible | 0.496% | 202 |
| Admixed American | 0.477% | 210 |
| Middle Eastern | 0.379% | 264 |
| South Asian | 0.0428% | 2,335 |
| European (non-Finnish) | 0.0147% | 6,821 |
| East Asian | 0.00223% | 44,892 |
| Finnishnot grpmax-eligible | 0.00156% | 64,010 |
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.Tyr338=
- Coding
- c.1014T>C
- MANE Select
- NM_176822
- dbSNP
- rs116753166
- Type
- single nucleotide variant
- Location
- chr11:7043040 (GRCh38)
- Gene constraint
- LOEUF 1.179 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.47 · 4 PDB
- Residue 338
- the nacht domain
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-tyr338 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown