S43T (p.Ser43Thr) variant of PSEN1 (Presenilin-1)
S43T (p.Ser43Thr) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S43T (p.Ser43Thr) variant details
- p.Ser43Thr
- gnomAD 14-73160042-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 7.70
- Population evidence available
- Structural context available
- Literature evidence available