CDH23 p.Thr46fs
c.136_137del · rs2132023620 · VCV1414155
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 70 |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.5, phastCons 1 |
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
- CDH23
- Protein
- p.Thr46fs
- Coding
- c.136_137del
- MANE Select
- NM_022124
- dbSNP
- rs2132023620
- Type
- Microsatellite
- Location
- chr10:71446384 (GRCh38)
- Gene constraint
- LOEUF 0.685 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 46
- the cadherin 1 domain
Similar variants
- CDH23 p.Thr46Lys Uncertain significance ★★ same residue
- CDH23 p.Thr46Met Uncertain significance ★★ ⚠ same residue
- CDH23 p.Thr46= Likely benign ★ same residue
- CDH23 p.Gln462fs Pathogenic/Likely pathogenic ★★ same type
- CDH23 p.Glu2135fs Pathogenic ★★ same type
- CDH23 p.Gly2156fs Pathogenic/Likely pathogenic ★★ same type
- CDH23 p.Phe2664del Pathogenic/Likely pathogenic ★★ same type
- CDH23 p.Phe3083fs 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/cdh23-p-thr46fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown