S43S (p.Ser43Ser) variant of PSEN1 (Presenilin-1)
S43S (p.Ser43Ser) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- rs1457096274
- gnomAD 14-73160044-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 7.16
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available