CFAP418 p.Arg157=
c.471G>A · rs2132151688 · VCV3028134
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
Conditions
1
inherited retinal dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.24 | acceptor loss · deltas |
|---|---|---|
| Pangolin | Δ0.33 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP 0.61, phastCons 1 |
| Overall | ||
| CADD | 15.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,173,184 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000125%
2/1,601,210 alleles · very rare
exomes 2/1,450,102 · genomes 0/151,108 · joint denominator
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.Arg157=
- Coding
- c.471G>A
- MANE Select
- NM_177965
- dbSNP
- rs2132151688
- Type
- single nucleotide variant
- Location
- chr8:95247770 (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.Arg157Gly 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.Pro106Leu Uncertain significance ★★ ⚠ same condition
- CFAP418 p.Ile188= Likely benign ★★ same condition
- CFAP418 p.Pro19Ala Benign/Likely benign ★★ 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-arg157 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown