G130R (p.Gly130Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G130R (p.Gly130Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The record also includes structural context.
G130R (p.Gly130Arg) variant details
- p.Gly130Arg
- ExAC rs770355673
- gnomAD rs770355673
- Missense
- Structural context available