A55E (p.Ala55Glu) variant of IRS2 (Insulin receptor substrate 2)
A55E (p.Ala55Glu) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A55E (p.Ala55Glu) variant details
- p.Ala55Glu
- ExAC rs758017473
- TOPMed rs758017473
- gnomAD rs758017473
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.08
- CADD 15.40
- PolyPhen-2 0.24
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available