L14I (p.Leu14Ile) variant of NF2 (Merlin)
L14I (p.Leu14Ile) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- gnomAD 22-29604038-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.36
- CADD 24.20
- PolyPhen-2 0.81
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available