A2V (p.Ala2Val) variant of NF2 (Merlin)
A2V (p.Ala2Val) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 22-29604003-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.49
- CADD 28.10
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available