Q56Q (p.Gln56Gln) variant of PSEN1 (Presenilin-1)
Q56Q (p.Gln56Gln) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q56Q (p.Gln56Gln) variant details
- p.Gln56Gln
- rs755402092
- gnomAD 14-73170877-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available