G123A (p.Gly123Ala) variant of IRS1 (Insulin receptor substrate 1)
G123A (p.Gly123Ala) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
G123A (p.Gly123Ala) variant details
- p.Gly123Ala
- ESP rs200009513
- ExAC rs200009513
- TOPMed rs200009513
- gnomAD rs200009513
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- CADD 9.10
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the 1KG:MSL population (allele frequency 0.013)