COL4A1 p.Pro352fs
c.1052dup · rs1555305682 · VCV451417
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 19 of 52 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.9 | GERP -1.9 |
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
- COL4A1
- Protein
- p.Pro352fs
- Coding
- c.1052dup
- MANE Select
- NM_001845
- dbSNP
- rs1555305682
- Type
- Duplication
- Location
- chr13:110201469 (GRCh38)
- Gene constraint
- LOEUF 0.238 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 49.43 · 4 PDB
- Residue 352
- the 'disordered' region; a UniProt-annotated variant site (in ich; the mutant protein is retained intracellularly and is not secreted normally); the 'triple-helical region' region
Similar variants
- COL4A1 p.Pro352Gln Uncertain significance ★★ ⚠ same residue
- COL4A1 p.Pro352= Conflicting classifications of pathogenicity ★ same residue
- COL4A1 p.Pro352Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- COL4A1 p.Leu502fs Pathogenic/Likely pathogenic ★★ same type
- COL4A1 p.Ala983_Gln988dup Uncertain significance ★★ same type
- COL4A1 c.2096-27dup Benign/Likely benign ★★ same type
- COL4A1 c.2627-4dup Likely benign ★★ same type
- COL4A1 c.3326-13dup Benign/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/col4a1-p-pro352fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown