V7E (p.Val7Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
V7E (p.Val7Glu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
V7E (p.Val7Glu) variant details
- p.Val7Glu
- TOPMed rs121912474
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available