L37P (p.Leu37Pro) variant of CASR (P41180)
L37P (p.Leu37Pro) 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.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- rs2473205484
- ClinGen CA354362151
- ClinVar RCV003781009
- 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