CP p.Tyr375=
c.1125C>T · rs2472840386 · VCV2897644
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
aceruloplasminemia
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 2.6 | GERP -2.6, phastCons 1 |
| Overall | ||
| CADD | 4.446 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CP
- Protein
- p.Tyr375=
- Coding
- c.1125C>T
- MANE Select
- NM_000096
- dbSNP
- rs2472840386
- Type
- single nucleotide variant
- Location
- chr3:149206251 (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 375
- a β-strand; the plastocyanin-like 3 domain
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 p.Tyr375His Uncertain significance ★ ⚠ same residue
- CP c.1208+1G>A Pathogenic ★★ same condition
- CP c.2879-1G>T Likely pathogenic ★★ same condition
- CP p.Arg901Ter Pathogenic ★★ same condition
- CP p.Gly195Arg Likely pathogenic ★★ same condition
- CP p.Gly650Arg Pathogenic/Likely pathogenic ★★ same condition
- CP p.Gly708Ser Pathogenic ★★ same condition
- CP p.Leu919Pro Pathogenic/Likely 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-tyr375 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown