R45K (p.Arg45Lys) variant of BACH2 (Q9BYV9)
R45K (p.Arg45Lys) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
R45K (p.Arg45Lys) variant details
- p.Arg45Lys
- ESP rs144485006
- ExAC rs144485006
- TOPMed rs144485006
- gnomAD rs144485006
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.06
- CADD 22.00
- PolyPhen-2 0.08
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)