G128R (p.Gly128Arg) variant of IRS1 (Insulin receptor substrate 1)
G128R (p.Gly128Arg) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data.
G128R (p.Gly128Arg) variant details
- p.Gly128Arg
- rs1382730133
- TOPMed rs1382730133
- gnomAD rs1382730133
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)