E102K (p.Glu102Lys) variant of IRS1 (Insulin receptor substrate 1)
E102K (p.Glu102Lys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- ESP rs377203122
- ExAC rs377203122
- gnomAD rs377203122
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.84
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)