R680H (p.Arg680His) variant of CASR (P41180)
R680H (p.Arg680His) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CASR-related disorder; Familial hypocalciuric hypercalcemia 1; Neonatal severe p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R680H (p.Arg680His) variant details
- p.Arg680His
- rs773146939
- ClinGen CA2569773
- ClinVar RCV000231951
- ClinVar RCV000991741
- Pathogenic/Likely pathogenic
- CASR-related disorder; Familial hypocalciuric hypercalcemia 1; Neonatal severe p
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CASR-related disorder; Familial hypocalciuric hypercalcemia 1; N)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the East Asian population (allele frequency 2.5e-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)