E604K (p.Glu604Lys) variant of CASR (P41180)
E604K (p.Glu604Lys) 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; Familial hypocalciuric hypercalcemia; Autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
E604K (p.Glu604Lys) variant details
- p.Glu604Lys
- rs104893712
- ClinGen CA119533
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56134
- Pathogenic
- Autosomal dominant hypocalcemia; Familial hypocalciuric hypercalcemia; Autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.77
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia; Familial hypocalciuric hypercal)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing… (PMID 12574188)
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)