R117P (p.Arg117Pro) variant of CYP27B1 (O15528)
R117P (p.Arg117Pro) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
R117P (p.Arg117Pro) variant details
- p.Arg117Pro
- ExAC rs765161769
- gnomAD rs765161769
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- ESM-1b 1.00
- AlphaMissense 0.93
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available