A123P (p.Ala123Pro) variant of CYP27B1 (O15528)
A123P (p.Ala123Pro) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, 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 0.59 / 1. The record also includes structural context.
A123P (p.Ala123Pro) variant details
- p.Ala123Pro
- TOPMed rs1955357287
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- ESM-1b 1.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available