CFI p.Ser90fs
c.267del · rs2126224367 · VCV1455043
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 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 1.9, 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
- CFI
- Protein
- p.Ser90fs
- Coding
- c.267del
- MANE Select
- NM_000204
- dbSNP
- rs2126224367
- Type
- Deletion
- Location
- chr4:109766615 (GRCh38)
- Gene constraint
- LOEUF 1.076 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.50 · 2 PDB
- Residue 90
- a disulfide bond; the kazal-like domain; an α-helix
Similar variants
- CFI p.Ser90Asn Likely pathogenic ★ same residue
- CFI p.Asn549fs Likely pathogenic ★★ same type
- CFI p.Glu434fs Pathogenic/Likely pathogenic ★★ same type
- CFI p.Gly263fs Pathogenic ★★ same type
- CFI p.Leu484fs Pathogenic/Likely pathogenic ★★ same type
- CFI p.Lys89fs Pathogenic ★★ same type
- CFI p.Met138fs Pathogenic/Likely pathogenic ★★ same type
- CFI p.Ala294del Uncertain significance ★★ 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/cfi-p-ser90fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown