W35* (p.Trp35Ter) variant of CLN3 (Battenin)
W35* (p.Trp35Ter) 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 0.76 / 1. The record also includes population frequency data and published literature.
W35* (p.Trp35Ter) variant details
- p.Trp35Ter
- rs386833700
- ClinGen CA263613
- ClinVar RCV000049661
- ClinVar RCV000760369
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)