D4E (p.Asp4Glu) variant of MSI1 (O43347)
D4E (p.Asp4Glu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- TOPMed rs1876225459
- gnomAD rs1876225459
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.02
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available