COL18A1 p.Pro1104Trp
c.3310_3311delinsTG · rs2146119886 · VCV1297030
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Knobloch syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.51 | GERP -2.4 |
| Regional constraint | o/e 1.10 | unconstrained · MANE · 107 kb · p 4.9e-06 · regional, not allelic |
Population frequency
dbSNP / gnomAD
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
- COL18A1
- Protein
- p.Pro1104Trp
- Coding
- c.3310_3311delinsTG
- MANE Select
- NM_001379500
- dbSNP
- rs2146119886
- Type
- Indel
- Location
- chr21:45509416 (GRCh38)
- Gene constraint
- LOEUF 1.001 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 51.77 · 9 PDB
- Residue 1104
- the 'triple-helical region 4 (col4)' region; the 'disordered' region
Similar variants
- COL18A1 p.Pro1104= Likely benign ★★ same residue
- COL18A1 p.Pro1104Arg Benign/Likely benign ★★ same residue
- COL18A1 p.Pro1104Gln Uncertain significance ★ ⚠ same residue
- COL18A1 p.Pro1104Leu Uncertain significance ★ ⚠ same residue
- COL18A1 p.Pro1104Ser Uncertain significance ★ ⚠ same residue
- COL18A1 c.3013+3A>C Likely pathogenic ★★ same condition
- COL18A1 c.3809+2T>C Pathogenic ★★ same condition
- COL18A1 p.Arg790Ter Pathogenic ★★ same condition
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/col18a1-p-pro1104trp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown