H114Y (p.His114Tyr) variant of IRS1 (Insulin receptor substrate 1)
H114Y (p.His114Tyr) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
H114Y (p.His114Tyr) variant details
- p.His114Tyr
- TOPMed rs1939798638
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.32
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.31
- Most common in the 1KG:CLM population (allele frequency 0.0053)