L127R (p.Leu127Arg) variant of IRS1 (Insulin receptor substrate 1)
L127R (p.Leu127Arg) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
L127R (p.Leu127Arg) variant details
- p.Leu127Arg
- gnomAD rs1188452881
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- CADD 9.45
- PolyPhen-2 0.01
- SIFT 0.68
- Most common in the 1KG:MSL population (allele frequency 0.013)