S30S (p.Ser30Ser) variant of PSEN2 (Presenilin-2)
S30S (p.Ser30Ser) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- gnomAD 1-226881997-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 10.30
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available