E63K (p.Glu63Lys) variant of CYP27B1 (O15528)
E63K (p.Glu63Lys) in CYP27B1 (O15528) 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 0.70 / 1. The record also includes structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- NCI-TCGA TCGA novel
- TOPMed rs1955366197
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- ESM-1b 1.00
- AlphaMissense 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available