R116H (p.Arg116His) variant of IRS1 (Insulin receptor substrate 1)
R116H (p.Arg116His) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
R116H (p.Arg116His) variant details
- p.Arg116His
- 1000Genomes rs142957124
- ESP rs142957124
- ExAC rs142957124
- TOPMed rs142957124
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.16
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)