Y20C (p.Tyr20Cys) variant of CASR (P41180)
Y20C (p.Tyr20Cys) 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 0.63 / 1. The record also includes population frequency data and structural context.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- rs2074528819
- ClinGen CA354362044
- ClinVar RCV004525651
- TOPMed rs2074528819
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available