E130G (p.Glu130Gly) variant of CYP27B1 (O15528)
E130G (p.Glu130Gly) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
E130G (p.Glu130Gly) variant details
- p.Glu130Gly
- gnomAD rs1156863154
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- ESM-1b 1.00
- AlphaMissense 0.18
- Structural context available