COL11A2 p.Pro1422fs
c.4264_4265insT · VCV3648928
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 59 of 66 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COL11A2
- Protein
- p.Pro1422fs
- Coding
- c.4264_4265insT
- MANE Select
- NM_080680
- Type
- Insertion
- Location
- chr6:33166793 (GRCh38)
- Gene constraint
- LOEUF 0.503 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 50.18
- Residue 1422
- the 'disordered' region; the 'triple-helical region' region; a UniProt-annotated variant site (in)
Similar variants
- COL11A2 p.Pro1422Leu Benign/Likely benign ★★ ⚠ same residue
- COL11A2 p.Pro1422= Likely benign ★ same residue
- COL11A2 p.Pro1422Ser Likely benign ★ ⚠ same residue
- COL11A2 c.3529-3_3529-2insG Uncertain significance ★ same type
- COL11A2 c.3960+14_3960+15insT Uncertain significance ★ same type
- COL11A2 c.2629-19_2629-18insGTCT Likely 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/col11a2-p-pro1422fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown