R72W (p.Arg72Trp) variant of IRS2 (Insulin receptor substrate 2)
R72W (p.Arg72Trp) in IRS2 (Insulin receptor substrate 2) 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 and structural context.
R72W (p.Arg72Trp) variant details
- p.Arg72Trp
- TOPMed rs1877905253
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.74
- CADD 29.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available