E51E (p.Glu51Glu) variant of PSEN2 (Presenilin-2)
E51E (p.Glu51Glu) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E51E (p.Glu51Glu) variant details
- p.Glu51Glu
- gnomAD 1-226883716-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0828
- CADD 0.31
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available