E16K (p.Glu16Lys) variant of PSEN2 (Presenilin-2)
E16K (p.Glu16Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- gnomAD 1-226881953-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.69
- CADD 29.50
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available