D59E (p.Asp59Glu) variant of PSEN2 (Presenilin-2)
D59E (p.Asp59Glu) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D59E (p.Asp59Glu) variant details
- p.Asp59Glu
- ExAC rs767577993
- TOPMed rs767577993
- gnomAD rs767577993
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.34
- CADD 10.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available