R148W (p.Arg148Trp) variant of MSI1 (O43347)
R148W (p.Arg148Trp) 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.
R148W (p.Arg148Trp) variant details
- p.Arg148Trp
- 1000Genomes rs1210336675
- TOPMed rs1210336675
- gnomAD rs1210336675
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.73
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available