H121D (p.His121Asp) variant of IRS1 (Insulin receptor substrate 1)
H121D (p.His121Asp) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
H121D (p.His121Asp) variant details
- p.His121Asp
- TOPMed rs1294358621
- gnomAD rs1294358621
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.53
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)