L50P (p.Leu50Pro) variant of IRS2 (Insulin receptor substrate 2)
L50P (p.Leu50Pro) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- Ensembl rs2138939565
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.79
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available