CFAP418 p.Pro106=
c.318G>A · rs751128167 · VCV1681129
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0113%, eas)
Conditions
1
inherited retinal dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.6 | GERP -2.9 |
| Overall | ||
| CADD | 7.063 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0113%
East Asian · 5/44,326 alleles
Filtering AF
0.00811%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00762%
Overall
0.00873%
140/1,604,480 alleles · ultra-rare
exomes 130/1,452,596 · genomes 10/151,884 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0113% | 8,865 |
| Remaining individualsnot grpmax-eligible | 0.0113% | 8,879 |
| South Asian | 0.0113% | 8,884 |
| European (non-Finnish) | 0.0096% | 10,415 |
| African / African-American | 0.00539% | 18,536 |
| Admixed American | 0.00173% | 57,948 |
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
- CFAP418
- Protein
- p.Pro106=
- Coding
- c.318G>A
- MANE Select
- NM_177965
- dbSNP
- rs751128167
- Type
- single nucleotide variant
- Location
- chr8:95259896 (GRCh38)
- Gene constraint
- LOEUF 1.642 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.73
Similar variants
- CFAP418 p.Pro106Leu Uncertain significance ★★ ⚠ same residue
- CFAP418 p.Arg177Trp Pathogenic/Likely pathogenic ★★ same condition
- CFAP418 p.Trp147Ter Pathogenic/Likely pathogenic ★★ same condition
- CFAP418 p.Glu13Lys Uncertain significance ★★ ⚠ same condition
- CFAP418 p.Leu71Phe Uncertain significance ★★ ⚠ same condition
- CFAP418 p.Ile188= Likely benign ★★ same condition
- CFAP418 p.Pro19Ala Benign/Likely benign ★★ same condition
- CFAP418 c.374+1G>A 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/cfap418-p-pro106 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown