S48R (p.Ser48Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
S48R (p.Ser48Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
S48R (p.Ser48Arg) variant details
- p.Ser48Arg
- ExAC rs758035884
- TOPMed rs758035884
- gnomAD rs758035884
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available