Q46* (p.Gln46Ter) variant of PSEN2 (Presenilin-2)
Q46* (p.Gln46Ter) in PSEN2 (Presenilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- ExAC rs757319285
- TOPMed rs757319285
- gnomAD rs757319285
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available