CFAP418 p.Ser150=
c.450G>A · rs35141355 · VCV364000
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 -3.1 | GERP -2.6 |
| Overall | ||
| CADD | 7.949 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Finnishnot grpmax-eligible | 5.99% | 17 |
| Amishnot grpmax-eligible | 2.08% | 48 |
| European (non-Finnish)grpmax | 1.72% | 58 |
| Remaining individualsnot grpmax-eligible | 1.61% | 62 |
| Ashkenazi Jewishnot grpmax-eligible | 1.52% | 66 |
| South Asian | 1.45% | 69 |
| Admixed American | 0.953% | 105 |
| East Asian | 0.535% | 187 |
| Middle Eastern | 0.479% | 209 |
| African / African-American | 0.331% | 302 |
Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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.Ser150=
- Coding
- c.450G>A
- MANE Select
- NM_177965
- dbSNP
- rs35141355
- Type
- single nucleotide variant
- Location
- chr8:95252208 (GRCh38)
- Gene constraint
- LOEUF 1.642 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.73
Disease context
cone-rod dystrophy 16 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: inherited retinal dystrophyretinitis pigmentosa
For Cone rod dystrophy (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- CFAP418 p.Ser150Trp Uncertain significance ★★ ⚠ same residue
- CFAP418 p.Ser150Leu Uncertain significance ★ ⚠ same residue
- CFAP418 p.Arg177Trp Pathogenic/Likely pathogenic ★★ same condition
- CFAP418 p.Trp147Ter Pathogenic/Likely pathogenic ★★ same condition
- CFAP418 c.*408G>A Uncertain significance ★★ same condition
- CFAP418 c.*965C>G Uncertain significance ★★ same condition
- CFAP418 p.Ala45Gly Uncertain significance ★★ ⚠ same condition
- CFAP418 p.Arg177Gln Uncertain significance ★★ ⚠ 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-ser150 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown