P55S (p.Pro55Ser) variant of CASR (P41180)
P55S (p.Pro55Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- rs2107625041
- ClinGen CA354362268
- ClinVar RCV003052285
- NCI-TCGA TCGA novel
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.95
- MetaLR 0.84
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.41
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance (in HHC1)
- UniProt: Uncertain significance (in HHC1)
- Structural context available