F832S (p.Phe832Ser) variant of CASR (P41180)
F832S (p.Phe832Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
F832S (p.Phe832Ser) variant details
- p.Phe832Ser
- rs2107650603
- ClinGen CA354160076
- ClinVar RCV001976111
- ClinVar RCV005025564
- Pathogenic/Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- MutPred 0.79
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)
- Cited in: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (PMID 10487661)