S25G (p.Ser25Gly) variant of PSEN2 (Presenilin-2)
S25G (p.Ser25Gly) in PSEN2 (Presenilin-2) is a missense 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.
S25G (p.Ser25Gly) variant details
- p.Ser25Gly
- gnomAD 1-226881980-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.58
- CADD 18.90
- PolyPhen-2 0.15
- SIFT 0.40
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available