P41R (p.Pro41Arg) variant of IRS1 (Insulin receptor substrate 1)
P41R (p.Pro41Arg) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
P41R (p.Pro41Arg) variant details
- p.Pro41Arg
- ExAC rs747512782
- TOPMed rs747512782
- gnomAD rs747512782
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.67
- CADD 28.10
- PolyPhen-2 0.79
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)