R148Q (p.Arg148Gln) variant of MSI1 (O43347)
R148Q (p.Arg148Gln) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- TOPMed rs1311127832
- gnomAD rs1311127832
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.72
- CADD 29.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available