C92* (p.Cys92Ter) variant of CLN3 (Battenin)
C92* (p.Cys92Ter) in CLN3 (Battenin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
C92* (p.Cys92Ter) variant details
- p.Cys92Ter
- rs1443772167
- ClinGen CA395346224
- ClinVar RCV002308399
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available