G670R (p.Gly670Arg) variant of CASR (P41180)
G670R (p.Gly670Arg) 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; Autosomal dominant hypocalcemia 1; Autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G670R (p.Gly670Arg) variant details
- p.Gly670Arg
- rs2074927550
- ClinGen CA354158292
- ClinVar RCV002026824
- ClinVar RCV004690232
- Pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial… (PMID 17698911)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)