R107Q (p.Arg107Gln) variant of MSI1 (O43347)
R107Q (p.Arg107Gln) in MSI1 (O43347) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R107Q (p.Arg107Gln) variant details
- p.Arg107Gln
- TOPMed rs1337094477
- gnomAD rs1337094477
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.59
- CADD 24.70
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available