S68C (p.Ser68Cys) variant of IRS1 (Insulin receptor substrate 1)
S68C (p.Ser68Cys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
S68C (p.Ser68Cys) variant details
- p.Ser68Cys
- ExAC rs752608556
- gnomAD rs752608556
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- CADD 24.30
- PolyPhen-2 0.61
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 1.7e-05)