Q127E (p.Gln127Glu) variant of MSI1 (O43347)
Q127E (p.Gln127Glu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q127E (p.Gln127Glu) variant details
- p.Gln127Glu
- gnomAD rs1227350893
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.33
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available