H7Q (p.His7Gln) variant of IRS2 (Insulin receptor substrate 2)
H7Q (p.His7Gln) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
H7Q (p.His7Gln) variant details
- p.His7Gln
- 1000Genomes rs1210016272
- gnomAD rs1210016272
- Missense
- Variant Prioritization Score for Impact Estimate 0.068
- REVEL 0.05
- CADD 2.83
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the 1KG:STU population (allele frequency 0.0055)
- Structural context available