E15* (p.Glu15Ter) variant of CLN3 (Battenin)
E15* (p.Glu15Ter) 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 0.62 / 1. The record also includes published literature.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- rs1228953213
- ClinGen CA395347505
- ClinVar RCV001384656
- gnomAD rs1228953213
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.618
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM 0.68
- PolyPhen-2 0.61
- SIFT 0.06
- MutPred 0.29
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)