T114K (p.Thr114Lys) variant of CYP27B1 (O15528)
T114K (p.Thr114Lys) 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 0.27 / 1. The record also includes population frequency data and structural context.
T114K (p.Thr114Lys) variant details
- p.Thr114Lys
- gnomAD rs1247839240
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available