E67D (p.Glu67Asp) variant of PSEN1 (Presenilin-1)
E67D (p.Glu67Asp) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- gnomAD 14-73170910-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.54
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available