E158D (p.Glu158Asp) variant of MSI1 (O43347)
E158D (p.Glu158Asp) in MSI1 (O43347) 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.
E158D (p.Glu158Asp) variant details
- p.Glu158Asp
- ExAC rs766320746
- gnomAD rs766320746
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.42
- CADD 14.30
- PolyPhen-2 0.07
- SIFT 0.49
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available