C6 p.Asn808fs
c.2416_2422dup · rs2478197098 · VCV2985079
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 17 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -3.8 |
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
- C6
- Protein
- p.Asn808fs
- Coding
- c.2416_2422dup
- MANE Select
- NM_000065
- dbSNP
- rs2478197098
- Type
- Duplication
- Location
- chr5:41149441 (GRCh38)
- Gene constraint
- LOEUF 1.008 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.72 · 11 PDB
- Residue 808
- the kazal-like 1 domain; the 'c5b-binding domain' region; the 'factor i module (fim) 1' region; a turn; a disulfide bond
Similar variants
- C6 p.Asn808= Likely benign ★ same residue
- C6 p.Tyr451Ter Pathogenic/Likely pathogenic ★★ same type
- C6 p.Tyr810fs Pathogenic/Likely pathogenic ★★ same type
- C6 p.Cys93fs Pathogenic ★ same type
- C6 p.Tyr285fs Likely 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/c6-p-asn808fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown