D66E (p.Asp66Glu) variant of PSEN1 (Presenilin-1)
D66E (p.Asp66Glu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D66E (p.Asp66Glu) variant details
- p.Asp66Glu
- gnomAD 14-73170907-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.50
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available