D79V (p.Asp79Val) variant of MBP (Myelin basic protein)
D79V (p.Asp79Val) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D79V (p.Asp79Val) variant details
- p.Asp79Val
- gnomAD rs1971696362
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.12
- CADD 14.20
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available