R33* (p.Arg33Ter) variant of PSEN1 (Presenilin-1)
R33* (p.Arg33Ter) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- rs551209945
- gnomAD 14-73160012-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.52
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available