C5 p.Ile509fs
c.1525del · rs2540430178 · VCV2002442
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 13 of 41 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- C5
- Protein
- p.Ile509fs
- Coding
- c.1525del
- MANE Select
- NM_001735
- dbSNP
- rs2540430178
- Type
- Deletion
- Location
- chr9:121017834 (GRCh38)
- Gene constraint
- LOEUF 0.779 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.67 · 49 PDB
- Residue 509
- a β-strand; a UniProt-annotated variant site (in c5d)
Similar variants
- C5 c.3154+13del Benign/Likely benign ★★ same type
- C5 c.4220+20_4220+27del Likely benign ★★ same type
- C5 p.Ala1155fs Likely pathogenic ★ same type
- C5 p.Gln1504fs Pathogenic ★ same type
- C5 p.Glu1413fs Pathogenic ★ same type
- C5 p.His1390fs Pathogenic ★ same type
- C5 p.Leu1161fs Pathogenic ★ same type
- C5 p.Met596fs Pathogenic ★ 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/c5-p-ile509fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown