SAG p.Phe379fs
c.1137del · VCV4960659
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.8 | GERP 1.5, 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
- SAG
- Protein
- p.Phe379fs
- Coding
- c.1137del
- MANE Select
- NM_000541
- Type
- Deletion
- Location
- chr2:233346827 (GRCh38)
- Structure
- AlphaFold pLDDT 83.02 · 7 PDB
Similar variants
- SAG p.Phe379Ser Uncertain significance ★★ ⚠ same residue
- SAG c.72_75+15del Likely pathogenic ★★ same type
- SAG p.Asn309fs Pathogenic ★★ same type
- SAG p.Asp374fs Uncertain significance ★★ same type
- SAG p.Asn232fs Pathogenic ★ same type
- SAG p.Gln93fs Likely pathogenic ★ same type
- SAG p.Glu270fs Pathogenic ★ same type
- SAG p.Leu207fs 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/sag-p-phe379fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown