R116G (p.Arg116Gly) variant of IRS1 (Insulin receptor substrate 1)
R116G (p.Arg116Gly) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
R116G (p.Arg116Gly) variant details
- p.Arg116Gly
- TOPMed rs910703300
- gnomAD rs910703300
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.24
- CADD 27.10
- PolyPhen-2 0.68
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)