A31D (p.Ala31Asp) variant of NF2 (Merlin)
A31D (p.Ala31Asp) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- gnomAD 22-29604090-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.70
- CADD 27.80
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available