E11K (p.Glu11Lys) variant of PSEN2 (Presenilin-2)
E11K (p.Glu11Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- gnomAD 1-226881938-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.52
- CADD 27.80
- PolyPhen-2 0.37
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available