A109P (p.Ala109Pro) variant of IRS1 (Insulin receptor substrate 1)
A109P (p.Ala109Pro) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
A109P (p.Ala109Pro) variant details
- p.Ala109Pro
- gnomAD rs1486646288
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.80
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)