C37* (p.Cys37Ter) variant of NF2 (Merlin)
C37* (p.Cys37Ter) in NF2 (Merlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C37* (p.Cys37Ter) variant details
- p.Cys37Ter
- gnomAD 22-29604109-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available