S22* (p.Ser22Ter) variant of PSEN2 (Presenilin-2)
S22* (p.Ser22Ter) in PSEN2 (Presenilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- gnomAD 1-226881972-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available