H121Q (p.His121Gln) variant of IRS1 (Insulin receptor substrate 1)
H121Q (p.His121Gln) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
H121Q (p.His121Gln) variant details
- p.His121Gln
- ExAC rs772845560
- gnomAD rs772845560
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)