E297K (p.Glu297Lys) variant of CASR (P41180)
E297K (p.Glu297Lys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. 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.
E297K (p.Glu297Lys) variant details
- p.Glu297Lys
- rs121909259
- ClinGen CA119469
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56137
- Pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.89
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)
- Cited in: A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene. (PMID 16642557)