G123R (p.Gly123Arg) variant of IRS1 (Insulin receptor substrate 1)
G123R (p.Gly123Arg) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
G123R (p.Gly123Arg) variant details
- p.Gly123Arg
- TOPMed rs1401391365
- gnomAD rs1401391365
- NCI-TCGA Cosmic COSV1005
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.09
- CADD 17.90
- PolyPhen-2 0.26
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)