F11L (p.Phe11Leu) variant of NF2 (Merlin)
F11L (p.Phe11Leu) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- gnomAD 22-29604031-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.31
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available