S68N (p.Ser68Asn) variant of IRS1 (Insulin receptor substrate 1)
S68N (p.Ser68Asn) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
S68N (p.Ser68Asn) variant details
- p.Ser68Asn
- TOPMed rs1346780306
- gnomAD rs1346780306
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the 1KG:MXL population (allele frequency 0.0081)