E100K (p.Glu100Lys) variant of IRS1 (Insulin receptor substrate 1)
E100K (p.Glu100Lys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- 1000Genomes rs570775459
- ExAC rs570775459
- gnomAD rs570775459
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.81
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)