C88* (p.Cys88Ter) variant of USH2A (Usherin)
C88* (p.Cys88Ter) in USH2A (Usherin) 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 0.27 / 1. The record also includes population frequency data and structural context.
C88* (p.Cys88Ter) variant details
- p.Cys88Ter
- rs368798834
- ClinGen CA344904337
- ClinVar RCV001093205
- ClinVar RCV005633886
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 26.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available