G67E (p.Gly67Glu) variant of PSEN2 (Presenilin-2)
G67E (p.Gly67Glu) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- gnomAD 1-226883763-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.55
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available