D136E (p.Asp136Glu) variant of MSI1 (O43347)
D136E (p.Asp136Glu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D136E (p.Asp136Glu) variant details
- p.Asp136Glu
- ExAC rs755538859
- TOPMed rs755538859
- gnomAD rs755538859
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.45
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available