V13E (p.Val13Glu) variant of IRS1 (Insulin receptor substrate 1)
V13E (p.Val13Glu) in IRS1 (Insulin receptor substrate 1) 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.
V13E (p.Val13Glu) variant details
- p.Val13Glu
- TOPMed rs1482198491
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)