R116C (p.Arg116Cys) variant of IRS1 (Insulin receptor substrate 1)
R116C (p.Arg116Cys) in IRS1 (Insulin receptor substrate 1) 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 0.49 / 1. The record also includes population frequency data.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- rs910703300
- ClinGen CA66574148
- ClinVar RCV004403311
- TOPMed rs910703300
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.25
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)