E91Q (p.Glu91Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)
E91Q (p.Glu91Gln) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and population frequency data.
E91Q (p.Glu91Gln) variant details
- p.Glu91Gln
- ExAC rs768148366
- gnomAD rs768148366
- Uncertain significance
- Epidermolysis bullosa dystrophica
- Missense
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Epidermolysis bullosa dystrophica)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)