R22* (p.Arg22Ter) variant of COL7A1 (Collagen alpha-1(VII) chain)
R22* (p.Arg22Ter) in COL7A1 (Collagen alpha-1(VII) chain) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
R22* (p.Arg22Ter) variant details
- p.Arg22Ter
- Ensembl rs1559444829
- Stop Gained
- CADD 34.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)