E27* (p.Glu27Ter) variant of COL7A1 (Collagen alpha-1(VII) chain)
E27* (p.Glu27Ter) 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.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs2107811815
- ClinGen CA352750194
- ClinVar RCV001953811
- Ensembl rs2107811815
- Pathogenic
- Stop Gained
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available