E50K (p.Glu50Lys) variant of IRS1 (Insulin receptor substrate 1)
E50K (p.Glu50Lys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- gnomAD rs1469971676
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.67
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)