A83S (p.Ala83Ser) variant of MBP (Myelin basic protein)
A83S (p.Ala83Ser) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A83S (p.Ala83Ser) variant details
- p.Ala83Ser
- gnomAD 18-76980004-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 2.12
- Population evidence available
- Structural context available
- Literature evidence available