C60R (p.Cys60Arg) variant of CASR (P41180)
C60R (p.Cys60Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CASR-related disorder. The record also includes structural context.
C60R (p.Cys60Arg) variant details
- p.Cys60Arg
- rs2473205862
- ClinGen CA354362300
- ClinVar RCV004554898
- Uncertain significance
- CASR-related disorder
- Missense
- ClinVar: Uncertain significance (CASR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available