C143R (p.Cys143Arg) variant of BACH2 (Q9BYV9)
C143R (p.Cys143Arg) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
C143R (p.Cys143Arg) variant details
- p.Cys143Arg
- ExAC rs770539643
- gnomAD rs770539643
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)