K2682R (p.Lys2682Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
K2682R (p.Lys2682Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized dominant dystrophic epidermolysis bullosa. The record also includes variant effect predictions and population frequency data.
K2682R (p.Lys2682Arg) variant details
- p.Lys2682Arg
- gnomAD rs2043662453
- Pathogenic
- Generalized dominant dystrophic epidermolysis bullosa
- Missense
- CADD 34.00
- ClinVar: Pathogenic (Generalized dominant dystrophic epidermolysis bullosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)