G68E (p.Gly68Glu) variant of BACH2 (Q9BYV9)
G68E (p.Gly68Glu) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
G68E (p.Gly68Glu) variant details
- p.Gly68Glu
- cosmic curated COSV57601
- Ensembl rs45509798
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.37
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)