A94T (p.Ala94Thr) variant of IRS1 (Insulin receptor substrate 1)
A94T (p.Ala94Thr) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
A94T (p.Ala94Thr) variant details
- p.Ala94Thr
- ExAC rs780282946
- TOPMed rs780282946
- gnomAD rs780282946
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.60
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)