CDHR1 p.Asp47del
c.139_141del · rs2492461355 · VCV2032744
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP 3.1, phastCons 1 |
Population frequency
dbSNP / gnomAD
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
- CDHR1
- Protein
- p.Asp47del
- Coding
- c.139_141del
- MANE Select
- NM_033100
- dbSNP
- rs2492461355
- Type
- Deletion
- Location
- chr10:84195577 (GRCh38)
- Gene constraint
- LOEUF 1.004 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.79
- Residue 47
- the cadherin 1 domain
Similar variants
- CDHR1 p.Asp47Gly Uncertain significance ★ ⚠ same residue
- CDHR1 p.Asp238fs Pathogenic/Likely pathogenic ★★ same type
- CDHR1 p.Asp696fs Pathogenic ★★ same type
- CDHR1 p.Cys4fs Likely pathogenic ★★ same type
- CDHR1 p.Glu264fs Likely pathogenic ★★ same type
- CDHR1 p.Glu99fs Pathogenic ★★ same type
- CDHR1 p.Gly113fs Pathogenic ★★ same type
- CDHR1 p.Gly488fs 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/cdhr1-p-asp47del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown