R62M (p.Arg62Met) variant of CASR (P41180)
R62M (p.Arg62Met) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypocalciuric hypercalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
R62M (p.Arg62Met) variant details
- p.Arg62Met
- rs121909265
- ClinGen CA119505
- ClinVar RCV000008836
- UniProt VAR 003586
- Pathogenic
- Familial hypocalciuric hypercalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.85
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.58
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia 1)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (PMID 7726161)
- Cited in: Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. (PMID 8702647)