P221Q (p.Pro221Gln) variant of CASR (P41180)
P221Q (p.Pro221Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
P221Q (p.Pro221Gln) variant details
- p.Pro221Gln
- rs397514728
- ClinGen CA144611
- ClinVar RCV000054482
- ClinVar RCV002515738
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.82
- MetaLR 0.50
- MetaSVM -0.07
- PolyPhen-2 0.52
- SIFT 0.31
- EVE 0.13
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial… (PMID 17698911)
- Cited in: Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering… (PMID 22422767)