A2T (p.Ala2Thr) variant of IRS1 (Insulin receptor substrate 1)
A2T (p.Ala2Thr) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ESP rs146417400
- ExAC rs146417400
- TOPMed rs146417400
- gnomAD rs146417400
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.19
- CADD 26.90
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)