Q32Q (p.Gln32Gln) variant of PSEN2 (Presenilin-2)
Q32Q (p.Gln32Gln) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q32Q (p.Gln32Gln) variant details
- p.Gln32Gln
- gnomAD 1-226882003-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 7.78
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available