T109A (p.Thr109Ala) variant of MMAB (Q96EY8)
T109A (p.Thr109Ala) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
T109A (p.Thr109Ala) variant details
- p.Thr109Ala
- Ensembl rs112135078
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available