Q46S (p.Gln46Ser) variant of PSEN2 (Presenilin-2)
Q46S (p.Gln46Ser) in PSEN2 (Presenilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q46S (p.Gln46Ser) variant details
- p.Gln46Ser
- gnomAD 1-226882040-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 24.10
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available