D40E (p.Asp40Glu) variant of PSEN1 (Presenilin-1)
D40E (p.Asp40Glu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D40E (p.Asp40Glu) variant details
- p.Asp40Glu
- gnomAD 14-73170829-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.54
- CADD 2.05
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available