E147K (p.Glu147Lys) variant of INSR (Insulin receptor)
E147K (p.Glu147Lys) in INSR (Insulin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E147K (p.Glu147Lys) variant details
- p.Glu147Lys
- NCI-TCGA Cosmic COSV5716
- cosmic curated COSV57160
- TOPMed rs1967774741
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.84
- MetaLR 0.67
- MetaSVM 0.48
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available