L14F (p.Leu14Phe) variant of NF2 (Merlin)
L14F (p.Leu14Phe) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- gnomAD 22-29604038-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.32
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available