R33S (p.Arg33Ser) variant of IRS1 (Insulin receptor substrate 1)
R33S (p.Arg33Ser) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- ExAC rs762833254
- TOPMed rs762833254
- gnomAD rs762833254
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.66
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)