E157G (p.Glu157Gly) variant of BACH2 (Q9BYV9)
E157G (p.Glu157Gly) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
E157G (p.Glu157Gly) variant details
- p.Glu157Gly
- cosmic curated COSV10508
- 1000Genomes rs567759599
- ExAC rs567759599
- gnomAD rs567759599
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.02
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the 1KG:STU population (allele frequency 0.015)