H120Y (p.His120Tyr) variant of IRS1 (Insulin receptor substrate 1)
H120Y (p.His120Tyr) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
H120Y (p.His120Tyr) variant details
- p.His120Tyr
- ExAC rs760035936
- gnomAD rs760035936
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.58
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)