CD55 p.Lys160fs
c.478delA · VCV4930105
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 0.43 | GERP -1.7, phastCons 0.18 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CD55
- Protein
- p.Lys160fs
- Coding
- c.478delA
- MANE Select
- NM_000574
- Type
- Deletion
- Location
- chr1:207324747 (GRCh38)
- Gene constraint
- LOEUF 1.234 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.99 · 33 PDB
- Residue 160
- the sushi 2 domain; a β-strand
Similar variants
- 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.Glu273del 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
- CD55 c.1082-18_1082-10del 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-lys160fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown