E20Q (p.Glu20Gln) variant of CYP27B1 (O15528)
E20Q (p.Glu20Gln) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- ExAC rs775461299
- TOPMed rs775461299
- gnomAD rs775461299
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available