NLRP7 p.Pro103fs
c.308_315del · VCV4943962
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
NLRP7-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP 1.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- NLRP7
- Protein
- p.Pro103fs
- Coding
- c.308_315del
- MANE Select
- NM_001127255
- Type
- Deletion
- Location
- chr19:54940968 (GRCh38)
- Gene constraint
- LOEUF 0.959 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.25 · 3 PDB
Disease context
NLRP7-related disorder
Similar variants
- NLRP7 p.Glu113Glyfs Pathogenic/Likely pathogenic ★★ same condition
- NLRP7 p.Met427Thr Likely benign same condition
- NLRP7 p.Lys619Asnfs Pathogenic 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/nlrp7-p-pro103fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown