A125E (p.Ala125Glu) variant of IRS1 (Insulin receptor substrate 1)
A125E (p.Ala125Glu) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
A125E (p.Ala125Glu) variant details
- p.Ala125Glu
- ExAC rs768966933
- TOPMed rs768966933
- gnomAD rs768966933
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.09
- CADD 1.07
- PolyPhen-2 0.06
- SIFT 0.83
- Most common in the African/African-American population (allele frequency 0.00031)