E33K (p.Glu33Lys) variant of INSR (Insulin receptor)
E33K (p.Glu33Lys) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- TOPMed rs1968562506
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.28
- MetaLR 0.33
- MetaSVM -0.47
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available