COL4A1 p.Pro211=
c.633C>A · rs144773264 · VCV2766162
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 1,610,472)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.26 | GERP -1.1, phastCons 0.004 |
| Overall | ||
| CADD | 6.586 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,610,472). 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.Pro211=
- Coding
- c.633C>A
- MANE Select
- NM_001845
- dbSNP
- rs144773264
- Type
- single nucleotide variant
- Location
- chr13:110209410 (GRCh38)
- Gene constraint
- LOEUF 0.238 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 49.43 · 4 PDB
- Residue 211
- the 'disordered' region; the 'triple-helical region' region
Similar variants
- COL4A1 p.Pro211Ser Uncertain significance ★★ ⚠ same residue
- COL4A1 p.Pro211fs Uncertain significance same residue
- COL4A1 c.1085-2A>G Likely pathogenic ★★ same type
- COL4A1 c.1991-2A>G Likely pathogenic ★★ same type
- COL4A1 c.2458+1G>A Pathogenic ★★ same type
- COL4A1 c.2458+2T>C Pathogenic/Likely pathogenic ★★ same type
- COL4A1 c.3742+1G>A Pathogenic ★★ same type
- COL4A1 c.388-1G>C 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/col4a1-p-pro211 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown