G138C (p.Gly138Cys) variant of IRS1 (Insulin receptor substrate 1)
G138C (p.Gly138Cys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
G138C (p.Gly138Cys) variant details
- p.Gly138Cys
- 1000Genomes rs376142568
- ESP rs376142568
- ExAC rs376142568
- TOPMed rs376142568
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.85
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00041)