GRN p.Cys416fs
c.1246dup · rs794729671 · VCV203458
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 11 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.35 | GERP -2.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- GRN
- Protein
- p.Cys416fs
- Coding
- c.1246dup
- MANE Select
- NM_002087
- dbSNP
- rs794729671
- Type
- Duplication
- Location
- chr17:44352080 (GRCh38)
- Gene constraint
- LOEUF 0.59 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 76.74 · 8 PDB
- Residue 416
- a disulfide bond; a β-strand
Similar variants
- GRN p.Cys260fs Pathogenic ★★ same condition
- GRN p.Cys30fs Pathogenic ★ same condition
- GRN p.Ser129fs Pathogenic ★ same condition
- GRN p.Ser78fs Pathogenic ★ same condition
- GRN p.Cys253_Asp254delinsTer Pathogenic ★★ same condition
- GRN p.Gln130fs Pathogenic ★★ same condition
- GRN p.Asp254fs Pathogenic ★ same condition
- GRN p.Cys482Ter 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-cys416fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown