E767K (p.Glu767Lys) variant of CASR (P41180)
E767K (p.Glu767Lys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemia 1; Familial hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
E767K (p.Glu767Lys) variant details
- p.Glu767Lys
- rs2074935748
- ClinGen CA354159395
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56136
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemia 1; Familial hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- MutPred 0.71
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal… (PMID 15551332)
- Cited in: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (PMID 10487661)