A80D (p.Ala80Asp) variant of MBP (Myelin basic protein)
A80D (p.Ala80Asp) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A80D (p.Ala80Asp) variant details
- p.Ala80Asp
- rs1485831853
- gnomAD 18-76980030-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 7.17
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available