E37G (p.Glu37Gly) variant of PSEN1 (Presenilin-1)
E37G (p.Glu37Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- ExAC rs200958188
- gnomAD rs200958188
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available