A31V (p.Ala31Val) variant of NF2 (Merlin)
A31V (p.Ala31Val) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD 22-29604090-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.66
- CADD 27.40
- PolyPhen-2 0.56
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available