E34K (p.Glu34Lys) variant of PSEN1 (Presenilin-1)
E34K (p.Glu34Lys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- gnomAD 14-73170809-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available