G161E (p.Gly161Glu) variant of BACH2 (Q9BYV9)
G161E (p.Gly161Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
G161E (p.Gly161Glu) variant details
- p.Gly161Glu
- rs760001259
- ClinGen CA3928159
- ClinVar RCV002580197
- ExAC rs760001259
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.09
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)