Q50E (p.Gln50Glu) variant of PSEN2 (Presenilin-2)
Q50E (p.Gln50Glu) 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.
Q50E (p.Gln50Glu) variant details
- p.Gln50Glu
- gnomAD 1-226883711-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.45
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available