E47K (p.Glu47Lys) variant of BACH2 (Q9BYV9)
E47K (p.Glu47Lys) 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.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- ExAC rs764083605
- gnomAD rs764083605
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.37
- CADD 25.90
- PolyPhen-2 0.82
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)