R49Q (p.Arg49Gln) variant of BACH2 (Q9BYV9)
R49Q (p.Arg49Gln) 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.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- cosmic curated COSV57590
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.49
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)