G549R (p.Gly549Arg) variant of CASR (P41180)
G549R (p.Gly549Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G549R (p.Gly549Arg) variant details
- p.Gly549Arg
- rs2107648261
- ClinGen CA354156184
- NCI-TCGA Cosmic COSV9994
- cosmic curated COSV99949
- Pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.61
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- 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)