S59S (p.Ser59Ser) variant of PSEN1 (Presenilin-1)
S59S (p.Ser59Ser) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S59S (p.Ser59Ser) variant details
- p.Ser59Ser
- rs201998552
- gnomAD 14-73170886-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0813
- CADD 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available