COL11A1 p.Pro945fs
c.2831dup · VCV3644918
Pathogenic
Single submitter
Classification
Pathogenic
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 37 of 67 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.76 | GERP -0.68, phastCons 0.006 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COL11A1
- Protein
- p.Pro945fs
- Coding
- c.2831dup
- MANE Select
- NM_001854
- Type
- Duplication
- Location
- chr1:102970249 (GRCh38)
- Gene constraint
- LOEUF 0.349 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 53.06
- Residue 945
- the 'disordered' region; the 'triple-helical region' region
Similar variants
- COL11A1 p.Pro945Leu Uncertain significance ★ ⚠ same residue
- COL11A1 c.3816+2dup Pathogenic/Likely pathogenic ★★ same type
- COL11A1 p.Pro397_Asn398insTer Pathogenic/Likely pathogenic ★★ same type
- COL11A1 p.Asn1786fs Uncertain significance ★★ same type
- COL11A1 c.2098-4dup Benign/Likely benign ★★ same type
- COL11A1 c.2143-10dup Benign/Likely benign ★★ same type
- COL11A1 c.3817-11dup Likely benign ★★ same type
- COL11A1 c.3817-13dup 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/col11a1-p-pro945fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown