L14V (p.Leu14Val) variant of NF2 (Merlin)
L14V (p.Leu14Val) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 22-29604038-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.38
- CADD 23.90
- PolyPhen-2 0.69
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available