E3E (p.Glu3Glu) variant of PSEN1 (Presenilin-1)
E3E (p.Glu3Glu) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- gnomAD 14-73148028-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 11.50
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available