LEPR p.Val327fs
c.979del · VCV4893525
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
LEPR-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 8 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP -3.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- LEPR
- Protein
- p.Val327fs
- Coding
- c.979del
- MANE Select
- NM_002303
- Type
- Deletion
- Location
- chr1:65598789 (GRCh38)
- Gene constraint
- LOEUF 0.589 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 66.49 · 9 PDB
- Residue 327
- the fibronectin type-iii 1 domain
Disease context
LEPR-related disorder
Similar variants
- LEPR p.His78fs Likely pathogenic same condition
- LEPR p.Lys592fs Pathogenic same condition
- LEPR p.Thr1164fs Uncertain significance same condition
- LEPR c.371-10_371-8del Likely benign same condition
- LEPR c.371-12_371-9del Likely benign same condition
- LEPR c.371-13_371-9del Likely benign same condition
- LEPR c.371-16_371-9del Likely benign same condition
- LEPR c.371-19_371-9del Likely 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/lepr-p-val327fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown