R31W (p.Arg31Trp) variant of BACH2 (Q9BYV9)
R31W (p.Arg31Trp) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- cosmic curated COSV57605
- ExAC rs746587410
- gnomAD rs746587410
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.36
- CADD 25.80
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)