H44Y (p.His44Tyr) variant of IRS2 (Insulin receptor substrate 2)
H44Y (p.His44Tyr) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- ExAC rs751359671
- gnomAD rs751359671
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.67
- CADD 26.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available