G21R (p.Gly21Arg) variant of CASR (P41180)
G21R (p.Gly21Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs1064794290
- ClinGen CA16617810
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56138
- Conflicting interpretations
- Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hyperca)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-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)