C69G (p.Cys69Gly) variant of IRS1 (Insulin receptor substrate 1)
C69G (p.Cys69Gly) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
C69G (p.Cys69Gly) variant details
- p.Cys69Gly
- TOPMed rs887876961
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)