K52E (p.Lys52Glu) variant of CASR (P41180)
K52E (p.Lys52Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The record also includes structural context.
K52E (p.Lys52Glu) variant details
- p.Lys52Glu
- rs2473205722
- ClinGen CA354362246
- ClinVar RCV002303288
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available