Q32E (p.Gln32Glu) variant of PSEN2 (Presenilin-2)
Q32E (p.Gln32Glu) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q32E (p.Gln32Glu) variant details
- p.Gln32Glu
- ExAC rs760011841
- TOPMed rs760011841
- gnomAD rs760011841
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.41
- CADD 14.60
- PolyPhen-2 0.04
- SIFT 0.94
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available