R680C (p.Arg680Cys) variant of CASR (P41180)
R680C (p.Arg680Cys) 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 1; Autosomal dominant hypocal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R680C (p.Arg680Cys) variant details
- p.Arg680Cys
- rs767363250
- ClinGen CA2569772
- ClinVar RCV001289355
- ClinVar RCV002230400
- Pathogenic
- not provided; Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocal
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (not provided; Familial hypocalciuric hypercalcemia 1; Autosomal)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available