R53W (p.Arg53Trp) variant of MSI1 (O43347)
R53W (p.Arg53Trp) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R53W (p.Arg53Trp) variant details
- p.Arg53Trp
- gnomAD rs1350244081
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available