E191K (p.Glu191Lys) variant of CASR (P41180)
E191K (p.Glu191Lys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.46 / 1. The record also includes published literature and structural context.
E191K (p.Glu191Lys) variant details
- p.Glu191Lys
- rs104893697
- ClinGen CA119491
- ClinVar RCV000008828
- ClinVar RCV005025034
- Likely pathogenic
- Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.24
- MetaLR 0.56
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.60
- EVE 0.11
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypoc)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. (PMID 8813042)
- Cited in: Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. (PMID 8878438)