S43G (p.Ser43Gly) variant of PSEN1 (Presenilin-1)
S43G (p.Ser43Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- gnomAD 14-73170836-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.56
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available