Q1092P (p.Gln1092Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
Q1092P (p.Gln1092Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex 1A, generalized severe. The record also includes variant effect predictions and population frequency data.
Q1092P (p.Gln1092Pro) variant details
- p.Gln1092Pro
- 1000Genomes rs561709623
- Pathogenic
- Epidermolysis bullosa simplex 1A, generalized severe
- Missense
- CADD 33.00
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 1A, generalized severe)
- UniProt: Pathogenic
- Most common in the 1KG:PEL population (allele frequency 0.0059)