R148G (p.Arg148Gly) variant of MSI1 (O43347)
R148G (p.Arg148Gly) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R148G (p.Arg148Gly) variant details
- p.Arg148Gly
- 1000Genomes rs1210336675
- TOPMed rs1210336675
- gnomAD rs1210336675
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.75
- CADD 26.10
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available