GRN p.Ser82fs
c.243del · rs63751193 · VCV98129
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 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP 1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- GRN
- Protein
- p.Ser82fs
- Coding
- c.243del
- MANE Select
- NM_002087
- dbSNP
- rs63751193
- Type
- Deletion
- Location
- chr17:44349529 (GRCh38)
- Gene constraint
- LOEUF 0.59 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 76.74 · 8 PDB
Disease context
Similar variants
- GRN p.Gln130fs Pathogenic ★★ same condition
- GRN p.Gly35fs Pathogenic ★★ same condition
- GRN p.Ser82Ile Uncertain significance ★ ⚠ same residue
- GRN p.Pro512fs Pathogenic same condition
- GRN p.Arg110Ter Pathogenic ★★ same condition
- GRN p.Arg493Ter Pathogenic ★★ same condition
- GRN p.Cys31fs Pathogenic ★★ same condition
- GRN p.Gln300Ter Pathogenic ★★ 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/grn-p-ser82fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown