COL7A1 p.Pro2191=
c.6573G>A · rs779416907 · VCV2154074
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.0022%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.61 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.35 | gain · loss 0.17 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP -2.5 | GERP -4.1 |
| Overall | ||
| CADD | 20.4 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0022%
South Asian · 2/90,878 alleles
Filtering AF
0.000689%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000539%
Overall
0.0011%
16/1,460,538 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0022% | 45,439 |
| European (non-Finnish) | 0.00119% | 84,242 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- COL7A1
- Protein
- p.Pro2191=
- Coding
- c.6573G>A
- MANE Select
- NM_000094
- dbSNP
- rs779416907
- Type
- single nucleotide variant
- Location
- chr3:48573690 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
- Residue 2191
- the 'triple-helical region' region; the 'disordered' region
Similar variants
- COL7A1 p.Pro2191Arg Uncertain significance ★ same residue
- COL7A1 p.Pro2191Leu Conflicting classifications of pathogenicity ★ same residue
- COL7A1 c.1240+1G>T Likely pathogenic ★★ same type
- COL7A1 c.1637-1G>A Pathogenic/Likely pathogenic ★★ same type
- COL7A1 c.1906+1G>T Likely pathogenic ★★ same type
- COL7A1 c.2171-2A>G Likely pathogenic ★★ same type
- COL7A1 c.2587+1G>A Pathogenic/Likely pathogenic ★★ same type
- COL7A1 c.2587+40G>A 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/col7a1-p-pro2191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown