CD55 p.Thr123fs
c.367dup · VCV4292759
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
protein-losing enteropathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -4.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CD55
- Protein
- p.Thr123fs
- Coding
- c.367dup
- MANE Select
- NM_000574
- Type
- Duplication
- Location
- chr1:207324638 (GRCh38)
- Gene constraint
- LOEUF 1.234 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.99 · 33 PDB
- Residue 123
- a disulfide bond; the sushi 2 domain
Disease context
protein-losing enteropathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy
- Prevalence
- <1 / 1 000 000 (Worldwide)
Similar variants
- CD55 c.286+2T>G Likely pathogenic ★★ same condition
- CD55 p.Glu50Ter Pathogenic/Likely pathogenic ★★ same condition
- CD55 c.1081+1G>C Uncertain significance ★★ same condition
- CD55 p.Arg357Cys Uncertain significance ★★ ⚠ same condition
- CD55 p.Arg52Leu Benign/Likely benign ★★ ⚠ same condition
- CD55 p.Cys267Ser Pathogenic ★ same condition
- CD55 p.Ser199Leu Pathogenic ★ ⚠ same condition
- CD55 p.Trp33Ter 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/cd55-p-thr123fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown