V49L (p.Val49Leu) variant of IRS2 (Insulin receptor substrate 2)
V49L (p.Val49Leu) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- Ensembl rs2138939577
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.80
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available