W42* (p.Trp42Ter) variant of CLN3 (Battenin)
W42* (p.Trp42Ter) 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 0.82 / 1. The record also includes population frequency data and published literature.
W42* (p.Trp42Ter) variant details
- p.Trp42Ter
- rs781617143
- ClinGen CA7981045
- ClinVar RCV002644413
- ClinVar RCV003465993
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)