CD55 p.Glu273del
c.818_820del · rs2526965689 · VCV1962971
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.033%, mid)
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 -4.5 | GERP -3.6 |
| Overall | ||
| CADD | 4.456 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.033%
Middle Eastern · 2/6,060 alleles
Filtering AF
0.00582%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00242%
Overall
0.000186%
3/1,613,894 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.033% | 3,030 |
| East Asian | 0.00223% | 44,852 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CD55
- Protein
- p.Glu273del
- Coding
- c.818_820del
- MANE Select
- NM_000574
- dbSNP
- rs2526965689
- Type
- Deletion
- Location
- chr1:207331260 (GRCh38)
- Gene constraint
- LOEUF 1.234 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.99 · 33 PDB
- Residue 273
- a disulfide bond; the sushi 4 domain; a β-strand
Similar variants
- CD55 p.Glu273Gly Uncertain significance ★★ ⚠ same residue
- CD55 p.Lys347fs Uncertain significance ★★ same type
- CD55 p.Val302_Thr307del Uncertain significance ★★ same type
- CD55 c.123_286+132del Likely pathogenic ★ same type
- CD55 p.Lys160fs Uncertain significance ★ same type
- CD55 p.Pro332_Ser334del Uncertain significance ★ same type
- CD55 p.Ser330fs Uncertain significance ★ same type
- CD55 c.100+21del Likely 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/cd55-p-glu273del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown