F42S (p.Phe42Ser) variant of CASR (P41180)
F42S (p.Phe42Ser) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
F42S (p.Phe42Ser) variant details
- p.Phe42Ser
- rs1553765909
- ClinGen CA354362184
- ClinVar RCV002232605
- ClinVar RCV006552573
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.80
- MetaLR 0.66
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.27
- EVE 0.08
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)