Q4* (p.Gln4Ter) variant of KRT5 (Keratin, type II cytoskeletal 5)
Q4* (p.Gln4Ter) in KRT5 (Keratin, type II cytoskeletal 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs267607455
- ClinGen CA216643
- ClinVar RCV000056543
- Ensembl rs267607455
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available