E32* (p.Glu32Ter) variant of NF2 (Merlin)
E32* (p.Glu32Ter) in NF2 (Merlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- gnomAD 22-29604092-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available