G43R (p.Gly43Arg) variant of CASR (P41180)
G43R (p.Gly43Arg) 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 1; Autosomal dominant hypocalcemia 1; Neona. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- rs866899753
- ClinGen CA82607569
- ClinVar RCV001319156
- ClinVar RCV005023031
- Uncertain significance
- Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Neona
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- AlphaMissense 0.88
- MetaLR 0.75
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.38
- EVE 0.07
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available