R54Q (p.Arg54Gln) variant of IRS1 (Insulin receptor substrate 1)
R54Q (p.Arg54Gln) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- TOPMed rs1333900690
- gnomAD rs1333900690
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.31
- CADD 24.80
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)