V24L (p.Val24Leu) variant of NF2 (Merlin)
V24L (p.Val24Leu) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- gnomAD 22-29604068-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.65
- CADD 25.30
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available