CTNNB1 p.Ser23fs
c.67dup · rs2125616991 · VCV1072445
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -7.5 | GERP -5.5 |
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
- CTNNB1
- Protein
- p.Ser23fs
- Coding
- c.67dup
- MANE Select
- NM_001904
- dbSNP
- rs2125616991
- Type
- Duplication
- Location
- chr3:41224578 (GRCh38)
- Gene constraint
- LOEUF 0.139 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 81.02 · 50 PDB
- Residue 23
- the 'interaction with vcl' region; a modified residue (phosphoserine; by gsk3-beta; alternate); a UniProt-annotated variant site (in hepatocellular carcinoma; no effect); a β-strand
Similar variants
- CTNNB1 p.Ser23Gly Uncertain significance ★ ⚠ same residue
- CTNNB1 p.His499fs Pathogenic ★★ same type
- CTNNB1 p.Leu707fs Pathogenic/Likely pathogenic ★★ same type
- CTNNB1 p.Lys233Ter Pathogenic/Likely pathogenic ★★ same type
- CTNNB1 p.Tyr333Ter Pathogenic ★★ same type
- CTNNB1 c.1185+1dup Pathogenic ★ same type
- CTNNB1 p.Ala615Ter Pathogenic ★ same type
- CTNNB1 p.Ala622fs 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/ctnnb1-p-ser23fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown