K56E (p.Lys56Glu) variant of IRS1 (Insulin receptor substrate 1)
K56E (p.Lys56Glu) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- gnomAD rs1229507945
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.49
- CADD 30.00
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)