COL7A1 p.Pro1426=
c.4278G>A · rs749738987 · VCV991840
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.88 | donor loss at this position · masked 0 · deltas |
|---|---|---|
| Pangolin | Δ0.69 | loss · gain 0.06 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.33 | GERP -0.23, phastCons 0.99 |
| Overall | ||
| CADD | 20.8 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,606 |
| South Asiangrpmax | 0.00329% | 30,363 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,234 |
| European (non-Finnish) | 0.00237% | 42,140 |
| Admixed American | 0.00167% | 60,012 |
Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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.Pro1426=
- Coding
- c.4278G>A
- MANE Select
- NM_000094
- dbSNP
- rs749738987
- Type
- single nucleotide variant
- Location
- chr3:48583900 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
- Residue 1426
- the 'disordered' region; the 'triple-helical region' region; the 'interrupted collagenous region' region
Disease context
transient bullous dermolysis of the newborn — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: generalized dominant dystrophic epidermolysis bullosapretibial dystrophic epidermolysis bullosaepidermolysis bullosa with congenital localized absence of skin and deformity of nailsrecessive dystrophic epidermolysis bullosadystrophic epidermolysis bullosa pruriginosanonsyndromic congenital nail disorder 8
For Self-improving dystrophic epidermolysis bullosa (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- COL7A1 p.Pro1426Leu Uncertain significance ★ same residue
- COL7A1 c.1240+1G>T Likely pathogenic ★★ same condition
- COL7A1 c.1637-1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.1906+1G>T Likely pathogenic ★★ same condition
- COL7A1 c.2171-2A>G Likely pathogenic ★★ same condition
- COL7A1 c.2587+1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.266+1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.266+2T>C Pathogenic/Likely pathogenic ★★ 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/col7a1-p-pro1426 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown