E67E (p.Glu67Glu) variant of PSEN1 (Presenilin-1)
E67E (p.Glu67Glu) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E67E (p.Glu67Glu) variant details
- p.Glu67Glu
- gnomAD 14-73170910-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 6.84
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available