R46H (p.Arg46His) variant of IRS2 (Insulin receptor substrate 2)
R46H (p.Arg46His) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- Ensembl rs2138939601
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.87
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available