CDH11 p.Tyr232His
c.694T>C · VCV4838938
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.9557 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
2/3 damaging
AlphaMissense, REVEL, SaProt
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.9557 | likely pathogenic |
|---|---|---|
| REVEL | 0.814 | moderately pathogenic-leaning |
| SaProt | LLR -9.02 | tolerated |
| ⇒ AlphaMissense and REVEL call this damaging; SaProt does not. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.5, phastCons 1 |
| Regional constraint | o/e 0.67 | unconstrained · MANE · 13 kb · p 3.9e-10 · regional, not allelic |
| Overall | ||
| CADD | 29.8 | 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
- CDH11
- Protein
- p.Tyr232His
- Coding
- c.694T>C
- MANE Select
- NM_001797
- Type
- single nucleotide variant
- Location
- chr16:64991885 (GRCh38)
- Gene constraint
- LOEUF 0.249 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.65
- Residue 232
- a UniProt-annotated variant site (in esws); the cadherin 2 domain
Similar variants
- CDH11 p.Tyr232Phe Uncertain significance ★ ⚠ same residue
- CDH11 p.Tyr232Ter Pathogenic same residue
- CDH11 p.Ala228Ser Uncertain significance ★★ ⚠ same condition
- CDH11 p.Arg556Trp Uncertain significance ★★ ⚠ same condition
- CDH11 p.Gly45Arg Uncertain significance ★★ ⚠ same condition
- CDH11 p.Gly618Ser Uncertain significance ★★ ⚠ same condition
- CDH11 p.Ile649Val Uncertain significance ★★ ⚠ same condition
- CDH11 p.Val478Ile Likely benign ★★ same condition
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/cdh11-p-tyr232his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown