L14M (p.Leu14Met) variant of INSR (Insulin receptor)
L14M (p.Leu14Met) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- Ensembl rs1968565441
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.23
- MetaLR 0.46
- MetaSVM -0.60
- CADD 22.80
- PolyPhen-2 0.86
- SIFT 0.04
- Population evidence available
- Structural context available