P41L (p.Pro41Leu) variant of IRS1 (Insulin receptor substrate 1)
P41L (p.Pro41Leu) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- ExAC rs747512782
- TOPMed rs747512782
- gnomAD rs747512782
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.67
- CADD 24.90
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)