S53P (p.Ser53Pro) variant of CASR (P41180)
S53P (p.Ser53Pro) 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 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- rs2107625030
- ClinGen CA354362254
- ClinVar RCV002238566
- ClinVar RCV006558661
- Pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.78
- MetaLR 0.65
- MetaSVM 0.39
- PolyPhen-2 0.97
- SIFT 0.01
- MutPred 0.47
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric… (PMID 8636323)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)