S43* (p.Ser43Ter) variant of PSEN1 (Presenilin-1)
S43* (p.Ser43Ter) 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.
S43* (p.Ser43Ter) variant details
- p.Ser43Ter
- gnomAD 14-73160043-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.73
- Population evidence available
- Structural context available
- Literature evidence available