R28P (p.Arg28Pro) variant of IRS1 (Insulin receptor substrate 1)
R28P (p.Arg28Pro) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- 1000Genomes rs539464951
- ExAC rs539464951
- gnomAD rs539464951
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.93
- CADD 32.00
- Most common in the African/African-American population (allele frequency 0.00012)