C562Y (p.Cys562Tyr) variant of CASR (P41180)
C562Y (p.Cys562Tyr) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
C562Y (p.Cys562Tyr) variant details
- p.Cys562Tyr
- rs193922426
- ClinGen CA354156268
- ClinVar RCV002651726
- ClinVar RCV003491266
- Uncertain significance
- not specified; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperca
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (not specified; Autosomal dominant hypocalcemia 1; Familial hypoc)
- 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: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)