E30K (p.Glu30Lys) variant of ATP7B (Copper-transporting ATPase 2)
E30K (p.Glu30Lys) in ATP7B (Copper-transporting ATPase 2) 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 0.27 / 1. The record also includes structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available