R52Q (p.Arg52Gln) variant of BACH2 (Q9BYV9)
R52Q (p.Arg52Gln) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- cosmic curated COSV57600
- Ensembl rs2127780658
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.49
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)