CFH p.Phe170fs
c.510del · VCV4924910
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CFH-related disorder
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 -0.53 | GERP -2.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CFH
- Protein
- p.Phe170fs
- Coding
- c.510del
- MANE Select
- NM_000186
- Type
- Deletion
- Location
- chr1:196677555 (GRCh38)
- Gene constraint
- LOEUF 0.43 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.54 · 51 PDB
- Residue 170
- the sushi 3 domain
Disease context
CFH-related disorder
Similar variants
- CFH p.Gly247fs Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Lys1222fs Likely pathogenic ★ same condition
- CFH p.Phe170Tyr Uncertain significance ★ ⚠ same residue
- CFH p.Ser1191Leu Pathogenic ★★ ⚠ same condition
- CFH p.Trp71Ter Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Val942del Uncertain significance ★★ same condition
- CFH c.3134-1G>C Likely pathogenic ★ same condition
- CFH p.Lys644Ter Likely pathogenic ★ same condition
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-phe170fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown