S137R (p.Ser137Arg) variant of IRS1 (Insulin receptor substrate 1)
S137R (p.Ser137Arg) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
S137R (p.Ser137Arg) variant details
- p.Ser137Arg
- ExAC rs748060885
- TOPMed rs748060885
- gnomAD rs748060885
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.28
- CADD 19.50
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)