D31D (p.Asp31Asp) variant of PSEN1 (Presenilin-1)
D31D (p.Asp31Asp) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D31D (p.Asp31Asp) variant details
- p.Asp31Asp
- gnomAD 14-73170802-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 6.34
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available