R89* (p.Arg89Ter) variant of CLN3 (Battenin)
R89* (p.Arg89Ter) in CLN3 (Battenin) 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 0.65 / 1. The record also includes population frequency data and structural context.
R89* (p.Arg89Ter) variant details
- p.Arg89Ter
- Ensembl rs386833713
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available