Q83* (p.Gln83Ter) variant of COL7A1 (Collagen alpha-1(VII) chain)
Q83* (p.Gln83Ter) in COL7A1 (Collagen alpha-1(VII) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
Q83* (p.Gln83Ter) variant details
- p.Gln83Ter
- rs2531363692
- ClinGen CA352749236
- ClinVar RCV002828219
- Pathogenic
- Stop Gained
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)