S53* (p.Ser53Ter) variant of CASR (P41180)
S53* (p.Ser53Ter) in CASR (P41180) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHC1. The record also includes structural context.
S53* (p.Ser53Ter) variant details
- p.Ser53Ter
- rs2473205737
- ClinGen CA354362257
- ClinVar RCV003994927
- Pathogenic
- in HHC1
- Stop Gained
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available