A83T (p.Ala83Thr) variant of MBP (Myelin basic protein)
A83T (p.Ala83Thr) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- rs746208269
- gnomAD 18-76980004-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 2.66
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available