Q36Q (p.Gln36Gln) variant of PSEN2 (Presenilin-2)
Q36Q (p.Gln36Gln) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q36Q (p.Gln36Gln) variant details
- p.Gln36Gln
- rs1036852050
- gnomAD 1-226882015-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 0.98
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available