CDH8 p.Ile637=
c.1911C>T · rs28599533 · VCV711179
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.04%, afr)
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 -0.5 | GERP -5.7 |
| Overall | ||
| CADD | 5.431 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.04%
African / African-American · 1,525/74,608 alleles
Filtering AF
1.96%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.92%
Overall
0.106%
1,713/1,608,788 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.04% | 49 |
| Remaining individualsnot grpmax-eligible | 0.167% | 598 |
| Admixed American | 0.081% | 1,235 |
| Middle Eastern | 0.0665% | 1,503 |
| South Asian | 0.00663% | 15,080 |
| East Asian | 0.00223% | 44,808 |
| European (non-Finnish) | 0.00212% | 47,094 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CDH8
- Protein
- p.Ile637=
- Coding
- c.1911C>T
- MANE Select
- NM_001796
- dbSNP
- rs28599533
- Type
- single nucleotide variant
- Location
- chr16:61654097 (GRCh38)
- Gene constraint
- LOEUF 0.369 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26
Similar variants
- CDH8 p.Arg666Cys Likely benign ★★ ⚠ same type
- CDH8 p.Ile429= Benign ★★ same type
- CDH8 p.Tyr667= Benign/Likely benign ★★ same type
- CDH8 p.Ala30Thr Uncertain significance ★ ⚠ same type
- CDH8 p.Ala332Thr Uncertain significance ★ ⚠ same type
- CDH8 p.Ala443Thr Uncertain significance ★ ⚠ same type
- CDH8 p.Ala502Gly Uncertain significance ★ ⚠ same type
- CDH8 p.Ala629Val 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/cdh8-p-ile637 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown