D50G (p.Asp50Gly) variant of MBP (Myelin basic protein)
D50G (p.Asp50Gly) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- TOPMed rs1398322293
- gnomAD rs1398322293
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.39
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available