P221L (p.Pro221Leu) variant of CASR (P41180)
P221L (p.Pro221Leu) 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 0.45 / 1. The record also includes published literature and structural context.
P221L (p.Pro221Leu) variant details
- p.Pro221Leu
- rs397514728
- ClinGen CA144609
- ClinVar RCV000054481
- ClinVar RCV000518374
- Pathogenic
- Autosomal dominant hypocalcemia; Familial hypocalciuric hypercalcemia; Autosomal
- 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: Pathogenic (Autosomal dominant hypocalcemia; Familial hypocalciuric hypercal)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering… (PMID 22422767)
- Cited in: CASR gene activating mutations in two families with autosomal dominant hypocalcemia. (PMID 22789683)