COL4A4 p.Pro309fs
c.924del · rs2475580728 · VCV2739371
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 15 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.7 | GERP 1.6, phastCons 1 |
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
- COL4A4
- Protein
- p.Pro309fs
- Coding
- c.924del
- MANE Select
- NM_000092
- dbSNP
- rs2475580728
- Type
- Deletion
- Location
- chr2:227102795 (GRCh38)
- Gene constraint
- LOEUF 0.607 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 49.03 · 2 PDB
- Residue 309
- the 'triple-helical region' region
Similar variants
- COL4A4 p.Pro309= Likely benign ★ same residue
- COL4A4 c.1321_1369+3del Pathogenic/Likely pathogenic ★★ same type
- COL4A4 c.2385del Pathogenic/Likely pathogenic ★★ same type
- COL4A4 c.327+1_327+5del Likely pathogenic ★★ same type
- COL4A4 c.4091-8_4092del Likely pathogenic ★★ same type
- COL4A4 c.4216+1del Likely pathogenic ★★ same type
- COL4A4 c.71+1del Pathogenic/Likely pathogenic ★★ same type
- COL4A4 c.914_930+29del Pathogenic/Likely pathogenic ★★ 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/col4a4-p-pro309fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown