E57K (p.Glu57Lys) variant of PSEN2 (Presenilin-2)
E57K (p.Glu57Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- gnomAD 1-226883732-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.44
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available