Q72* (p.Gln72Ter) variant of CLN3 (Battenin)
Q72* (p.Gln72Ter) 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 0.54 / 1. The record also includes population frequency data and published literature.
Q72* (p.Gln72Ter) variant details
- p.Gln72Ter
- rs386833709
- ClinGen CA263642
- ClinVar RCV000049670
- ClinVar RCV000812617
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)