E34D (p.Glu34Asp) variant of NF2 (Merlin)
E34D (p.Glu34Asp) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD 22-29604100-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- CADD 24.10
- PolyPhen-2 0.06
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available