F48L (p.Phe48Leu) variant of IRS2 (Insulin receptor substrate 2)
F48L (p.Phe48Leu) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- Ensembl rs2138939578
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.75
- CADD 23.50
- PolyPhen-2 0.41
- SIFT 0.00
- Population evidence available
- Structural context available