CFAP418 p.Val139=
c.417A>G · rs1811720438 · VCV3028135
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -1.2 | GERP -2.9, phastCons 0.002 |
| Overall | ||
| CADD | 1.186 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CFAP418
- Protein
- p.Val139=
- Coding
- c.417A>G
- MANE Select
- NM_177965
- dbSNP
- rs1811720438
- Type
- single nucleotide variant
- Location
- chr8:95252241 (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.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
- 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-val139 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown