E37E (p.Glu37Glu) variant of PSEN1 (Presenilin-1)
E37E (p.Glu37Glu) 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.
E37E (p.Glu37Glu) variant details
- p.Glu37Glu
- rs1897863594
- gnomAD 14-73170820-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 1.08
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available