R145H (p.Arg145His) variant of INSR (Insulin receptor)
R145H (p.Arg145His) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R145H (p.Arg145His) variant details
- p.Arg145His
- gnomAD rs1210993396
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.86
- MetaLR 0.71
- MetaSVM 0.59
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available