S22S (p.Ser22Ser) variant of PSEN2 (Presenilin-2)
S22S (p.Ser22Ser) in PSEN2 (Presenilin-2) 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.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- rs367645069
- gnomAD 1-226881973-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0814
- CADD 0.10
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available