T109K (p.Thr109Lys) variant of MMAB (Q96EY8)
T109K (p.Thr109Lys) in MMAB (Q96EY8) 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 structural context.
T109K (p.Thr109Lys) variant details
- p.Thr109Lys
- ExAC rs762404377
- TOPMed rs762404377
- gnomAD rs762404377
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available