E17* (p.Glu17Ter) variant of CLN3 (Battenin)
E17* (p.Glu17Ter) 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 published literature.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- rs386833726
- ClinGen CA263691
- cosmic curated COSV10011
- ClinVar RCV000049688
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)