R99Q (p.Arg99Gln) variant of MSI1 (O43347)
R99Q (p.Arg99Gln) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R99Q (p.Arg99Gln) variant details
- p.Arg99Gln
- TOPMed rs1464070599
- gnomAD rs1464070599
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.58
- CADD 29.90
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available