CFH p.Glu19Ter
c.55G>T · VCV3767361
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
age related macular degeneration 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -4.7 |
| Overall | ||
| CADD | 33.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CFH
- Protein
- p.Glu19Ter
- Coding
- c.55G>T
- MANE Select
- NM_000186
- Type
- single nucleotide variant
- Location
- chr1:196652172 (GRCh38)
- Gene constraint
- LOEUF 0.43 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.54 · 51 PDB
- Residue 19
- the sushi 1 domain
Similar variants
- CFH p.Glu19Lys Likely benign ★ same residue
- CFH c.1337-2A>G Likely pathogenic ★★ same condition
- CFH c.2236+1G>C Likely pathogenic ★★ same condition
- CFH p.Arg1215Ter Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Arg53Cys Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Cys431Ser Likely pathogenic ★★ same condition
- CFH p.Cys611Ter Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Gln859Ter Pathogenic/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-glu19ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown