R25Q (p.Arg25Gln) variant of CASR (P41180)
R25Q (p.Arg25Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs568902441
- ClinGen CA2569415
- ClinVar RCV000531050
- ClinVar RCV001755832
- Conflicting interpretations
- Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hyperca)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- Structural context available