CP p.Glu803His
c.2407_2409delinsCAT · VCV3379505
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 -0.1 | GERP -4.1, phastCons 0.81 |
| Regional constraint | o/e 0.80 | unconstrained · MANE · 25 kb · p 2.5e-07 · regional, not allelic |
Variant & gene context
- Gene
- CP
- Protein
- p.Glu803His
- Coding
- c.2407_2409delinsCAT
- MANE Select
- NM_000096
- Type
- Indel
- Location
- chr3:149183482 (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 803
- an α-helix; the plastocyanin-like 5 domain
Similar variants
- CP p.Glu803Gln Uncertain significance ★★ ⚠ same residue
- CP p.Glu803Asp Uncertain significance ★ ⚠ same residue
- CP p.Glu803del Uncertain significance ★ same residue
- CP p.Glu803Gly Uncertain significance ★ ⚠ same residue
- HPS3 p.Thr803Ile Uncertain significance ★ ⚠ same residue
- HPS3 p.Cys831fs Likely pathogenic ★ same type
- HPS3 p.Cys915Tyr Uncertain significance ★ 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/cp-p-glu803his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown