A2D (p.Ala2Asp) variant of NF2 (Merlin)
A2D (p.Ala2Asp) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 22-29604003-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.44
- CADD 27.40
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available