Q49R (p.Gln49Arg) variant of CASR (P41180)
Q49R (p.Gln49Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q49R (p.Gln49Arg) variant details
- p.Gln49Arg
- rs1212959682
- ClinGen CA354362228
- ClinVar RCV004058002
- gnomAD rs1212959682
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 22.40
- PolyPhen-2 0.46
- SIFT 0.39
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available