COL9A2 p.Val446fs
c.1332del · rs1557793484 · VCV623682
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 26 of 32 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.6 | GERP 1.5, 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
- COL9A2
- Protein
- p.Val446fs
- Coding
- c.1332del
- MANE Select
- NM_001852
- dbSNP
- rs1557793484
- Type
- Deletion
- Location
- chr1:40303964 (GRCh38)
- Gene constraint
- LOEUF 0.817 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.99 · 4 PDB
- Residue 446
- the 'disordered' region; a UniProt-annotated variant site (sequence variant); the 'triple-helical region 3 (col3)' region
Similar variants
- COL9A2 p.Val446Gly Uncertain significance ★ ⚠ same residue
- COL9A2 p.Val446= Likely benign ★ same residue
- COL9A2 p.Asn503fs Pathogenic/Likely pathogenic ★★ same type
- COL9A2 p.Gly412fs Pathogenic ★★ same type
- COL9A2 p.Gly415fs Pathogenic/Likely pathogenic ★★ same type
- COL9A2 p.Leu537fs Pathogenic/Likely pathogenic ★★ same type
- COL9A2 p.Lys243fs Pathogenic ★★ same type
- COL9A2 c.1008+3_1008+6del Uncertain significance ★★ 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/col9a2-p-val446fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown