Q50Q (p.Gln50Gln) variant of PSEN2 (Presenilin-2)
Q50Q (p.Gln50Gln) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q50Q (p.Gln50Gln) variant details
- p.Gln50Gln
- gnomAD 1-226883713-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 8.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available