I92F (p.Ile92Phe) variant of MBP (Myelin basic protein)
I92F (p.Ile92Phe) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I92F (p.Ile92Phe) variant details
- p.Ile92Phe
- gnomAD 18-76979986-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 8.37
- Population evidence available
- Structural context available
- Literature evidence available