S139N (p.Ser139Asn) variant of IRS1 (Insulin receptor substrate 1)
S139N (p.Ser139Asn) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
S139N (p.Ser139Asn) variant details
- p.Ser139Asn
- 1000Genomes rs529797752
- ExAC rs529797752
- TOPMed rs529797752
- gnomAD rs529797752
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.05
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the 1KG:MSL population (allele frequency 0.013)