CFAP418 p.Ile67=
c.201T>A · rs865984138 · VCV1681140
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.012%, afr)
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 3.5 | GERP 0.62, phastCons 1 |
| Overall | ||
| CADD | 7.742 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.012%
African / African-American · 9/74,968 alleles
Filtering AF
0.00623%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00467%
Overall
0.000808%
13/1,609,884 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.012% | 8,330 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,354 |
| European (non-Finnish) | 0.000255% | 392,269 |
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.Ile67=
- Coding
- c.201T>A
- MANE Select
- NM_177965
- dbSNP
- rs865984138
- Type
- single nucleotide variant
- Location
- chr8:95263729 (GRCh38)
- Gene constraint
- LOEUF 1.642 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.73
- Residue 67
- the 'required for interaction with fam161a' region
Similar variants
- CFAP418 p.Arg177Trp Pathogenic/Likely pathogenic ★★ same type
- CFAP418 p.Trp147Ter Pathogenic/Likely pathogenic ★★ same type
- CFAP418 p.Trp185Ter Pathogenic/Likely pathogenic ★★ same type
- CFAP418 c.*408G>A Uncertain significance ★★ same type
- CFAP418 c.*965C>G Uncertain significance ★★ same type
- CFAP418 p.Ala178Val Uncertain significance ★★ ⚠ same type
- CFAP418 p.Ala45Gly Uncertain significance ★★ ⚠ same type
- CFAP418 p.Arg177Gln Uncertain significance ★★ ⚠ same type
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-ile67 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown