A89V (p.Ala89Val) variant of CYP27B1 (O15528)
A89V (p.Ala89Val) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- TOPMed rs1182872192
- gnomAD rs1182872192
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.48
- Population evidence available
- Structural context available