E114Q (p.Glu114Gln) variant of BACH2 (Q9BYV9)
E114Q (p.Glu114Gln) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
E114Q (p.Glu114Gln) variant details
- p.Glu114Gln
- rs2533568247
- ClinGen CA365073246
- ClinVar RCV003561628
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance