M9I (p.Met9Ile) variant of NF2 (Merlin)
M9I (p.Met9Ile) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
M9I (p.Met9Ile) variant details
- p.Met9Ile
- gnomAD 22-29604025-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.55
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available