R52W (p.Arg52Trp) variant of BACH2 (Q9BYV9)
R52W (p.Arg52Trp) in BACH2 (Q9BYV9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- TOPMed rs747200186
- gnomAD rs747200186
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.67
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)