A57S (p.Ala57Ser) variant of BACH2 (Q9BYV9)
A57S (p.Ala57Ser) 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.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- ExAC rs766462405
- TOPMed rs766462405
- gnomAD rs766462405
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.38
- CADD 24.70
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00038)