D12Y (p.Asp12Tyr) variant of IRS1 (Insulin receptor substrate 1)
D12Y (p.Asp12Tyr) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- TOPMed rs1325691401
- gnomAD rs1325691401
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.57
- CADD 28.00
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)