E39E (p.Glu39Glu) variant of PSEN2 (Presenilin-2)
E39E (p.Glu39Glu) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E39E (p.Glu39Glu) variant details
- p.Glu39Glu
- gnomAD 1-226882024-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 4.01
- Population evidence available
- Structural context available
- Literature evidence available