CFH p.Tyr106=
c.318T>C · rs1448752091 · VCV1547219
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 6.84e-05%)
Conditions
4
basal laminar drusen
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · T>G here scores Δ0.41 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.2 | GERP -4.2 |
| Overall | ||
| CADD | 4.082 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.84e-05%
Overall
6.84e-05%
1/1,461,064 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
- CFH
- Protein
- p.Tyr106=
- Coding
- c.318T>C
- MANE Select
- NM_000186
- dbSNP
- rs1448752091
- Type
- single nucleotide variant
- Location
- chr1:196673930 (GRCh38)
- Gene constraint
- LOEUF 0.43 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.54 · 51 PDB
- Residue 106
- the sushi 2 domain; a disulfide bond
Similar variants
- CFH c.1337-2A>G Likely pathogenic ★★ same condition
- CFH c.2236+1G>C Likely pathogenic ★★ same condition
- CFH c.350+1G>T Pathogenic/Likely pathogenic ★★ same condition
- CFH c.619+1G>A Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Arg1215Ter Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Arg232Ter Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Arg53Cys Pathogenic/Likely pathogenic ★★ same condition
- CFH p.Cys431Ser 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-tyr106 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown