I92V (p.Ile92Val) variant of MBP (Myelin basic protein)
I92V (p.Ile92Val) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I92V (p.Ile92Val) variant details
- p.Ile92Val
- gnomAD 18-76980407-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0995
- CADD 2.66
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available