D122E (p.Asp122Glu) variant of IRS1 (Insulin receptor substrate 1)
D122E (p.Asp122Glu) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
D122E (p.Asp122Glu) variant details
- p.Asp122Glu
- 1000Genomes rs566380529
- ExAC rs566380529
- gnomAD rs566380529
- Missense
- Variant Prioritization Score for Impact Estimate 0.042
- REVEL 0.02
- CADD 1.01
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the HGDP:YAKUT population (allele frequency 0.04)