S594R (p.Ser594Arg) variant of DSP (Desmoplakin)
S594R (p.Ser594Arg) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Keratosis palmoplantaris striata 2. The record also includes structural context.
S594R (p.Ser594Arg) variant details
- p.Ser594Arg
- rs2533894081
- ClinGen CA362679096
- ClinVar RCV002291238
- Likely pathogenic
- Keratosis palmoplantaris striata 2
- Missense
- ClinVar: Likely pathogenic (Keratosis palmoplantaris striata 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available