R54S (p.Arg54Ser) variant of CASR (P41180)
R54S (p.Arg54Ser) 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 0.62 / 1. The record also includes structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- rs2074531100
- ClinGen CA354362264
- ClinVar RCV001342401
- Ensembl rs2074531100
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.90
- MetaLR 0.67
- MetaSVM 0.18
- PolyPhen-2 0.96
- SIFT 0.07
- MutPred 0.44
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available