C562F (p.Cys562Phe) variant of CASR (P41180)
C562F (p.Cys562Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The record also includes structural context.
C562F (p.Cys562Phe) variant details
- p.Cys562Phe
- cosmic curated COSV10605
- Likely pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- UniProt: Likely pathogenic (in HHC1)
- Structural context available