COL1A2 p.Pro441=
c.1323T>C · rs757389790 · VCV1769958
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,594,346)
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.084 | GERP 0.97, phastCons 0.86 |
| Overall | ||
| CADD | 6.537 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,594,346). 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
- COL1A2
- Protein
- p.Pro441=
- Coding
- c.1323T>C
- MANE Select
- NM_000089
- dbSNP
- rs757389790
- Type
- single nucleotide variant
- Location
- chr7:94411127 (GRCh38)
- Gene constraint
- LOEUF 0.339 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.02 · 5 PDB
- Residue 441
- the 'disordered' region; a modified residue (4-hydroxyproline)
Similar variants
- COL1A2 p.Pro441Arg Uncertain significance ★ ⚠ same residue
- COL1A2 c.2565+1G>A Pathogenic ★★ same condition
- COL1A2 p.Ala1119Thr Pathogenic/Likely pathogenic ★★ same condition
- COL1A2 p.Gly259Ser Pathogenic/Likely pathogenic ★★ same condition
- COL1A2 p.Gly907Ser Pathogenic/Likely pathogenic ★★ same condition
- COL1A2 c.1251+2T>G Uncertain significance ★★ same condition
- COL1A2 c.1404+4A>C Uncertain significance ★★ same condition
- COL1A2 c.792+4A>T Uncertain significance ★★ 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/col1a2-p-pro441 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown