D122H (p.Asp122His) variant of IRS1 (Insulin receptor substrate 1)
D122H (p.Asp122His) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
D122H (p.Asp122His) variant details
- p.Asp122His
- TOPMed rs559822183
- gnomAD rs559822183
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.06
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)