A80A (p.Ala80Ala) variant of MBP (Myelin basic protein)
A80A (p.Ala80Ala) in MBP (Myelin basic protein) is a synonymous 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.
A80A (p.Ala80Ala) variant details
- p.Ala80Ala
- gnomAD 18-76980026-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 7.36
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available