E106K (p.Glu106Lys) variant of CYP27B1 (O15528)
E106K (p.Glu106Lys) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
E106K (p.Glu106Lys) variant details
- p.Glu106Lys
- ExAC rs756300813
- gnomAD rs756300813
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available