Q46Q (p.Gln46Gln) variant of PSEN2 (Presenilin-2)
Q46Q (p.Gln46Gln) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q46Q (p.Gln46Gln) variant details
- p.Gln46Gln
- rs1661034551
- gnomAD 1-226882045-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 8.25
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available