L77V (p.Leu77Val) variant of CYP27B1 (O15528)
L77V (p.Leu77Val) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
L77V (p.Leu77Val) variant details
- p.Leu77Val
- TOPMed rs1349810277
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available