D15E (p.Asp15Glu) variant of PSEN2 (Presenilin-2)
D15E (p.Asp15Glu) in PSEN2 (Presenilin-2) is a missense 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.
D15E (p.Asp15Glu) variant details
- p.Asp15Glu
- gnomAD 1-226881952-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.47
- CADD 8.78
- PolyPhen-2 0.06
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available