S48G (p.Ser48Gly) variant of KRT1 (Keratin, type II cytoskeletal 1)
S48G (p.Ser48Gly) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The record also includes structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- TOPMed rs1941565834
- Missense
- Structural context available