E56* (p.Glu56Ter) variant of CASR (P41180)
E56* (p.Glu56Ter) in CASR (P41180) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- rs1358793834
- ClinGen CA354362273
- ClinVar RCV001039545
- ClinVar RCV001536112
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available