E54E (p.Glu54Glu) variant of PSEN2 (Presenilin-2)
E54E (p.Glu54Glu) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- rs146894466
- gnomAD 1-226883725-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 5.89
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available