E38* (p.Glu38Ter) variant of NF2 (Merlin)
E38* (p.Glu38Ter) 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.
E38* (p.Glu38Ter) variant details
- p.Glu38Ter
- gnomAD 22-29604110-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 44.00
- Population evidence available
- Structural context available
- Literature evidence available