S5R (p.Ser5Arg) variant of CASR (P41180)
S5R (p.Ser5Arg) 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 0.39 / 1. The record also includes population frequency data and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs2473204932
- cosmic curated COSV56134
- ClinGen CA354361946
- ClinVar RCV004057413
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available