S9S (p.Ser9Ser) variant of PSEN2 (Presenilin-2)
S9S (p.Ser9Ser) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S9S (p.Ser9Ser) variant details
- p.Ser9Ser
- rs201692678
- gnomAD 1-226881934-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available