CNGA1 p.Ser73=
c.219A>G · rs2110157607 · VCV1660840
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -2.7 | GERP -4.3 |
| Overall | ||
| CADD | 0.494 | 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
- CNGA1
- Protein
- p.Ser73=
- Coding
- c.219A>G
- MANE Select
- NM_001379270
- dbSNP
- rs2110157607
- Type
- single nucleotide variant
- Location
- chr4:47951358 (GRCh38)
- Gene constraint
- LOEUF 0.779 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.88 · 19 PDB
- Residue 73
- the 'disordered' region
Similar variants
- CNGA1 c.107+1G>A Likely pathogenic ★★ same type
- CNGA1 c.107+2T>G Likely pathogenic ★★ same type
- CNGA1 c.545+2T>A Likely pathogenic ★★ same type
- CNGA1 c.545+2T>C Likely pathogenic ★★ same type
- CNGA1 c.546-1G>C Pathogenic/Likely pathogenic ★★ same type
- CNGA1 p.Arg214Ter Pathogenic ★★ same type
- CNGA1 p.Arg28Ter Pathogenic ★★ same type
- CNGA1 p.Arg420Ter Pathogenic/Likely 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/cnga1-p-ser73 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown