P70L (p.Pro70Leu) variant of IRS2 (Insulin receptor substrate 2)
P70L (p.Pro70Leu) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- TOPMed rs1165891062
- gnomAD rs1165891062
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.52
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available