FBP1 p.Phe90fs
c.267del · rs1085308003 · VCV427178
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 2 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.9, phastCons 1 |
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
- FBP1
- Protein
- p.Phe90fs
- Coding
- c.267del
- MANE Select
- NM_000507
- dbSNP
- rs1085308003
- Type
- Deletion
- Location
- chr9:94620395 (GRCh38)
- Gene constraint
- LOEUF 1.156 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.46 · 51 PDB
- Residue 90
- a turn
Similar variants
- FBP1 p.Lys204fs Pathogenic/Likely pathogenic ★★ same type
- FBP1 p.Pro235fs Pathogenic/Likely pathogenic ★★ same type
- FBP1 p.Val131fs Pathogenic ★★ same type
- FBP1 p.Ala44fs Pathogenic ★ same type
- FBP1 p.Gly260fs Pathogenic ★ same type
- FBP1 p.Ile195fs Pathogenic ★ same type
- FBP1 p.Leu95fs Pathogenic ★ same type
- FBP1 p.Met1fs 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/fbp1-p-phe90fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown