A90V (p.Ala90Val) variant of CYP27B1 (O15528)
A90V (p.Ala90Val) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- TOPMed rs1442728120
- gnomAD rs1442728120
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- ESM-1b 0.40
- AlphaMissense 0.14
- Population evidence available
- Structural context available