E12D (p.Glu12Asp) variant of PSEN2 (Presenilin-2)
E12D (p.Glu12Asp) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- ExAC rs761147472
- gnomAD rs761147472
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.48
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available