R220P (p.Arg220Pro) variant of CASR (P41180)
R220P (p.Arg220Pro) 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 0.49 / 1. The record also includes structural context.
R220P (p.Arg220Pro) variant details
- p.Arg220Pro
- rs1202110240
- ClinGen CA354151068
- ClinVar RCV002651722
- Pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.44
- MetaLR 0.58
- MetaSVM 0.06
- PolyPhen-2 0.99
- SIFT 0.10
- EVE 0.15
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available