CFI p.Ala294del
c.881_883del · rs1579215456 · VCV2446062
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 6.86e-05%)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 1.8, phastCons 1 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.86e-05%
Overall
6.86e-05%
1/1,456,834 alleles · very rare
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.Ala294del
- Coding
- c.881_883del
- MANE Select
- NM_000204
- dbSNP
- rs1579215456
- Type
- Deletion
- Location
- chr4:109760270 (GRCh38)
- Gene constraint
- LOEUF 1.076 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.50 · 2 PDB
- Residue 294
- the ldl-receptor class a 2 domain
Similar variants
- 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 c.329-8del Benign/Likely benign ★★ same type
- CFI p.Ala219fs 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/cfi-p-ala294del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown