CNGA3 p.Ser37fs
c.109_125del · rs2466976595 · VCV2996744
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.99 | GERP -2, phastCons 0.002 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CNGA3
- Protein
- p.Ser37fs
- Coding
- c.109_125del
- MANE Select
- NM_001298
- dbSNP
- rs2466976595
- Type
- Deletion
- Location
- chr2:98377692 (GRCh38)
- Gene constraint
- LOEUF 1.126 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.33 · 10 PDB
Similar variants
- CNGA3 p.Ser37= Benign/Likely benign ★★ same residue
- CNGA3 p.Ser37Ter Likely pathogenic ★ same residue
- CNGA3 p.Ser37Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- CNGA3 p.Ala411fs Pathogenic ★★ same type
- CNGA3 p.Asp507fs Pathogenic ★★ same type
- CNGA3 p.Ile4fs Pathogenic/Likely pathogenic ★★ same type
- CNGA3 p.Ile605fs Pathogenic ★★ same type
- CNGA3 p.Leu167fs Pathogenic ★★ 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/cnga3-p-ser37fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown