H7R (p.His7Arg) variant of IRS2 (Insulin receptor substrate 2)
H7R (p.His7Arg) in IRS2 (Insulin receptor substrate 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H7R (p.His7Arg) variant details
- p.His7Arg
- Ensembl rs1877914130
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.03
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.01
- CADD 8.34
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available