Q459R (p.Gln459Arg) variant of CASR (P41180)
Q459R (p.Gln459Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q459R (p.Gln459Arg) variant details
- p.Gln459Arg
- rs2107633334
- ClinGen CA354153430
- ClinVar RCV001379696
- ClinVar RCV001664859
- Pathogenic
- not provided; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalce
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Familial hypocalciuric hypercalcemia; Autosomal do)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Population evidence available
- Structural context available
- Cited in: A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal… (PMID 19789209)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)