A63V (p.Ala63Val) variant of MBP (Myelin basic protein)
A63V (p.Ala63Val) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- 1000Genomes rs61742941
- ESP rs61742941
- ExAC rs61742941
- TOPMed rs61742941
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.25
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available