Q83E (p.Gln83Glu) variant of MMAA (Q8IVH4)
Q83E (p.Gln83Glu) in MMAA (Q8IVH4) 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.
Q83E (p.Gln83Glu) variant details
- p.Gln83Glu
- Ensembl rs1727716552
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available