G553R (p.Gly553Arg) variant of CASR (P41180)
G553R (p.Gly553Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia 1; Familial hyperparathyroidism or Hypocalc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
G553R (p.Gly553Arg) variant details
- p.Gly553Arg
- rs104893719
- ClinGen CA119547
- ClinVar RCV000008862
- ClinVar RCV003320545
- Likely pathogenic
- Familial hypocalciuric hypercalcemia 1; Familial hyperparathyroidism or Hypocalc
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.14
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia 1; Familial hyperparathyroi)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- 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)