D14E (p.Asp14Glu) variant of MSI1 (O43347)
D14E (p.Asp14Glu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- 1000Genomes rs1475027871
- TOPMed rs1475027871
- gnomAD rs1475027871
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available