CDHR1 p.Ala159Val
c.476_477inv · VCV1061875
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 7.6 | GERP 4.5, phastCons 1 |
| Regional constraint | o/e 1.06 | unconstrained · MANE · 20 kb · p 0.035 · regional, not allelic |
Variant & gene context
- Gene
- CDHR1
- Protein
- p.Ala159Val
- Coding
- c.476_477inv
- MANE Select
- NM_033100
- Type
- Inversion
- Location
- chr10:84200638 (GRCh38)
- Gene constraint
- LOEUF 1.004 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.79
- Residue 159
- the cadherin 2 domain
Similar variants
- CDHR1 p.Ala159= Benign ★★ same residue
- CDHR1 p.Ala159Glu Likely pathogenic ★ same residue
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-ala159val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown