D8D (p.Asp8Asp) variant of PSEN2 (Presenilin-2)
D8D (p.Asp8Asp) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D8D (p.Asp8Asp) variant details
- p.Asp8Asp
- gnomAD 1-226881931-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available