T45I (p.Thr45Ile) variant of LBR (Delta(14)-sterol reductase LBR)
T45I (p.Thr45Ile) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- TOPMed rs2096133653
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.84
- Structural context available