Q36Q (p.Gln36Gln) variant of PSEN1 (Presenilin-1)
Q36Q (p.Gln36Gln) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Q36Q (p.Gln36Gln) variant details
- p.Gln36Gln
- gnomAD 14-73170817-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.51
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available