S43L (p.Ser43Leu) variant of PSEN1 (Presenilin-1)
S43L (p.Ser43Leu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- gnomAD 14-73160043-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.77
- Population evidence available
- Structural context available
- Literature evidence available