R14H (p.Arg14His) variant of IRS1 (Insulin receptor substrate 1)
R14H (p.Arg14His) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
R14H (p.Arg14His) variant details
- p.Arg14His
- ExAC rs752822640
- TOPMed rs752822640
- gnomAD rs752822640
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.46
- CADD 28.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)