C1S p.Phe247fs
c.741del · rs2539599999 · VCV2698081
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 7 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -3.6 |
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
- C1S
- Protein
- p.Phe247fs
- Coding
- c.741del
- MANE Select
- NM_001734
- dbSNP
- rs2539599999
- Type
- Deletion
- Location
- chr12:7065838 (GRCh38)
- Gene constraint
- LOEUF 0.783 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.02 · 14 PDB
- Residue 247
- a disulfide bond; the cub 2 domain; a β-strand
Similar variants
- C1S p.Ser115fs Pathogenic ★★ same type
- C1S c.518-13_518-6del Benign/Likely benign ★★ same type
- C1S c.6-10_6-9del Likely benign ★★ same type
- C1S p.Arg481fs Pathogenic ★ same type
- C1S p.Asn233fs Pathogenic ★ same type
- C1S p.Asn27fs Pathogenic ★ same type
- C1S p.Asn344fs Pathogenic ★ same type
- C1S p.Asp315_Val316delinsGlu 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/c1s-p-phe247fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown