L127F (p.Leu127Phe) variant of CYP27B1 (O15528)
L127F (p.Leu127Phe) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L127F (p.Leu127Phe) variant details
- p.Leu127Phe
- gnomAD rs1164061626
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- ESM-1b 1.00
- AlphaMissense 0.42
- Population evidence available
- Structural context available