G143R (p.Gly143Arg) variant of CASR (P41180)
G143R (p.Gly143Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G143R (p.Gly143Arg) variant details
- p.Gly143Arg
- rs769256610
- ClinGen CA2569467
- ClinVar RCV000226673
- ClinVar RCV002472975
- Pathogenic/Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)