E180K (p.Glu180Lys) variant of INSR (Insulin receptor)
E180K (p.Glu180Lys) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E180K (p.Glu180Lys) variant details
- p.Glu180Lys
- TOPMed rs1240458376
- gnomAD rs1240458376
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.50
- MetaLR 0.70
- MetaSVM 0.22
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available