P22S (p.Pro22Ser) variant of CASR (P41180)
P22S (p.Pro22Ser) 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.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs2473205246
- ClinGen CA354362054
- ClinVar RCV004554912
- Uncertain significance
- CASR-related disorder
- Missense
- ClinVar: Uncertain significance (CASR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available