R66C (p.Arg66Cys) variant of CASR (P41180)
R66C (p.Arg66Cys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Epile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R66C (p.Arg66Cys) variant details
- p.Arg66Cys
- rs121909266
- ClinGen CA119507
- NCI-TCGA Cosmic COSV9994
- cosmic curated COSV99949
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypoc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR… (PMID 16740594)
- Cited in: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (PMID 7726161)