C37F (p.Cys37Phe) variant of NF2 (Merlin)
C37F (p.Cys37Phe) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C37F (p.Cys37Phe) variant details
- p.Cys37Phe
- gnomAD 22-29604108-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available