R172G (p.Arg172Gly) variant of CASR (P41180)
R172G (p.Arg172Gly) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R172G (p.Arg172Gly) variant details
- p.Arg172Gly
- rs201851934
- ClinGen CA16604425
- ClinVar RCV000434715
- ClinVar RCV000705547
- Pathogenic/Likely pathogenic
- not provided; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalce
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.62
- MetaLR 0.67
- MetaSVM 0.23
- PolyPhen-2 0.99
- SIFT 0.15
- EVE 0.17
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hypocalciuric hypercalcemia; Autosomal do)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of… (PMID 23966241)
- Cited in: Structural mechanism of ligand activation in human calcium-sensing receptor. (PMID 27434672)