CFH p.Ile184fs
c.550del · VCV4291295
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
age related macular degeneration 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.85 | GERP -2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CFH
- Protein
- p.Ile184fs
- Coding
- c.550del
- MANE Select
- NM_000186
- Type
- Deletion
- Location
- chr1:196677598 (GRCh38)
- Gene constraint
- LOEUF 0.43 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.54 · 51 PDB
- Residue 184
- a β-strand; a disulfide bond; the sushi 3 domain
Similar variants
- CFH p.Ile184Phe Uncertain significance ★ ⚠ same residue
- CFH p.Ala415fs Pathogenic ★★ same condition
- CFH p.Gln47fs Likely pathogenic ★★ same condition
- CFH p.Leu750_Lys751del Uncertain significance ★★ same condition
- CFH c.245-9del Benign/Likely benign ★★ same condition
- CFH p.Ala301fs Pathogenic ★ same condition
- CFH c.1697-17_1697-8del Uncertain significance ★ same condition
- CFH p.Ile184Thr Uncertain significance ★ ⚠ same residue
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/cfh-p-ile184fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown