CEP83 p.Ile326Ser
c.977T>G · VCV3380118
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3598 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
0/2 damaging
REVEL, SaProt · AlphaMissense no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3598 | ambiguous |
|---|---|---|
| REVEL | 0.213 | benign-leaning |
| SaProt | LLR -8.92 | tolerated |
| ⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.1, phastCons 1 |
| Regional constraint | o/e 0.91 | unconstrained · MANE · 104 kb · p 0.01 · regional, not allelic |
| Overall | ||
| CADD | 24.5 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- CEP83
- Protein
- p.Ile326Ser
- Coding
- c.977T>G
- MANE Select
- NM_016122
- Type
- single nucleotide variant
- Location
- chr12:94369993 (GRCh38)
- Gene constraint
- LOEUF 0.807 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.90
Similar variants
- CEP83 p.Arg209Ter Pathogenic/Likely pathogenic ★★ same type
- CEP83 p.Arg215Ter Pathogenic/Likely pathogenic ★★ same type
- CEP83 p.Arg511Pro Pathogenic/Likely pathogenic ★★ same type
- CEP83 p.Arg511Ter Pathogenic/Likely pathogenic ★★ same type
- CEP83 p.Gln81Ter Pathogenic/Likely pathogenic ★★ same type
- CEP83 p.Leu351Ter Pathogenic/Likely pathogenic ★★ same type
- CEP83 p.Ala232Val Uncertain significance ★★ ⚠ same type
- CEP83 p.Ala243Val 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/cep83-p-ile326ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown