D59D (p.Asp59Asp) variant of PSEN2 (Presenilin-2)
D59D (p.Asp59Asp) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D59D (p.Asp59Asp) variant details
- p.Asp59Asp
- rs767577993
- gnomAD 1-226883740-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 7.63
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available