p.Gly56 Asp59del variant of PSEN2 (Presenilin-2)
p.Gly56 Asp59del in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly56 Asp59del variant details
- rs779700692
- gnomAD 1-226883719-CGAGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 20.50
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available