R7L (p.Arg7Leu) variant of INSR (Insulin receptor)
R7L (p.Arg7Leu) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- TOPMed rs979150286
- gnomAD rs979150286
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.11
- MetaLR 0.25
- MetaSVM -0.86
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.93
- Population evidence available
- Structural context available