R25M (p.Arg25Met) variant of NF2 (Merlin)
R25M (p.Arg25Met) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R25M (p.Arg25Met) variant details
- p.Arg25Met
- gnomAD 22-29604072-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.67
- CADD 27.60
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available