R98Q (p.Arg98Gln) variant of MSI1 (O43347)
R98Q (p.Arg98Gln) in MSI1 (O43347) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R98Q (p.Arg98Gln) variant details
- p.Arg98Gln
- rs1033191114
- NCI-TCGA Cosmic COSV5745
- TOPMed rs1033191114
- gnomAD rs1033191114
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available