T93K (p.Thr93Lys) variant of ETFA (P13804)
T93K (p.Thr93Lys) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
T93K (p.Thr93Lys) variant details
- p.Thr93Lys
- ESP rs367650430
- ExAC rs367650430
- TOPMed rs367650430
- gnomAD rs367650430
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 0.88
- Structural context available