V323M (p.Val323Met) variant of KRT5 (Keratin, type II cytoskeletal 5)
V323M (p.Val323Met) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epidermolysis bullosa simplex 2B, generalized intermediate. The record also includes structural context.
V323M (p.Val323Met) variant details
- p.Val323Met
- rs2498519756
- ClinGen CA384926649
- ClinVar RCV002281636
- Likely pathogenic
- Epidermolysis bullosa simplex 2B, generalized intermediate
- Missense
- ClinVar: Likely pathogenic (Epidermolysis bullosa simplex 2B, generalized intermediate)
- EBI: Likely pathogenic (in EBS2C)
- UniProt: Likely pathogenic (in EBS2C)
- Structural context available