H7P (p.His7Pro) variant of IRS2 (Insulin receptor substrate 2)
H7P (p.His7Pro) in IRS2 (Insulin receptor substrate 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
H7P (p.His7Pro) variant details
- p.His7Pro
- rs1877914130
- ClinGen CA388663979
- ClinVar RCV004078535
- Ensembl rs1877914130
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.79
- MutPred 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available