L5R (p.Leu5Arg) variant of CYP27B1 (O15528)
L5R (p.Leu5Arg) 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.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- ExAC rs745516871
- TOPMed rs745516871
- gnomAD rs745516871
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available