G557E (p.Gly557Glu) variant of CASR (P41180)
G557E (p.Gly557Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
G557E (p.Gly557Glu) variant details
- p.Gly557Glu
- rs1576875835
- ClinGen CA354156238
- NCI-TCGA Cosmic COSV9994
- cosmic curated COSV99948
- Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.61
- MetaLR 0.83
- MetaSVM 0.75
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.39
- ClinVar: Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. (PMID 11762699)
- Cited in: Structural mechanism of ligand activation in human calcium-sensing receptor. (PMID 27434672)