R33C (p.Arg33Cys) variant of IRS1 (Insulin receptor substrate 1)
R33C (p.Arg33Cys) 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 0.72 / 1. The record also includes population frequency data.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- rs762833254
- NCI-TCGA Cosmic COSV1005
- ExAC rs762833254
- TOPMed rs762833254
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)