R25* (p.Arg25Ter) variant of CASR (P41180)
R25* (p.Arg25Ter) 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 0.53 / 1. The record also includes population frequency data and structural context.
R25* (p.Arg25Ter) variant details
- p.Arg25Ter
- rs201633414
- ClinGen CA2569414
- cosmic curated COSV56141
- ClinVar RCV000413560
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available