CFAP418 p.Ser81=
c.243T>A · rs765997213 · VCV965601
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.000175%, nfe)
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 -0.72, phastCons 0.99 |
| Overall | ||
| CADD | 2.344 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000175%
European (non-Finnish) · 2/1,146,112 alleles
Filtering AF
2.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000141%
2/1,423,426 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
- CFAP418
- Protein
- p.Ser81=
- Coding
- c.243T>A
- MANE Select
- NM_177965
- dbSNP
- rs765997213
- Type
- single nucleotide variant
- Location
- chr8:95263687 (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.Ser81Ala Uncertain significance ★ ⚠ same residue
- CFAP418 p.Ser81fs Likely pathogenic ★ same residue
- 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
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-ser81 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown