CDIN1 p.Arg31del
c.91_93del · VCV3380256
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 5.3 | phastCons 1 |
Variant & gene context
- Gene
- CDIN1
- Protein
- p.Arg31del
- Coding
- c.91_93del
- MANE Select
- NM_001321759
- Type
- Deletion
- Location
- chr15:36579950 (GRCh38)
- Gene constraint
- LOEUF 0.931 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.59
Similar variants
- CDIN1 p.Asp87fs Uncertain significance ★ same type
- CDIN1 p.Pro242fs Uncertain significance ★ same type
- CDIN1 c.477-184del Benign ★ same type
- CDIN1 c.610+11del Likely benign ★ same type
- CDIN1 c.716+36816del Benign ★ 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/cdin1-p-arg31del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown