CP p.Ile97del
c.290_292del · rs2108302022 · VCV1521788
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
Conditions
1
aceruloplasminemia
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 4.2 | GERP 2.2, 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
- CP
- Protein
- p.Ile97del
- Coding
- c.290_292del
- MANE Select
- NM_000096
- dbSNP
- rs2108302022
- Type
- Deletion
- Location
- chr3:149212553 (GRCh38)
- Gene constraint
- LOEUF 0.624 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.79 · 4 PDB
- Residue 97
- the plastocyanin-like 1 domain; a β-strand
Disease context
aceruloplasminemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Aceruloplasminemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adult, Elderly
- Prevalence
- 1-9 / 1 000 000 (Japan)
Similar variants
- CP c.607+1del Pathogenic/Likely pathogenic ★★ same condition
- CP p.Pro689fs Pathogenic/Likely pathogenic ★★ same condition
- CP p.Met1* Uncertain significance ★★ same condition
- CP c.2286-15_2286-14del Benign/Likely benign ★★ same condition
- CP c.2286-15del Benign ★★ same condition
- CP c.2286-4del Benign/Likely benign ★★ same condition
- CP c.2078-75_2241del Likely pathogenic ★ same condition
- CP p.Ala675fs Pathogenic ★ 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/cp-p-ile97del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown