E42K (p.Glu42Lys) variant of PSEN2 (Presenilin-2)
E42K (p.Glu42Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- gnomAD 1-226882031-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available