A84V (p.Ala84Val) variant of BACH2 (Q9BYV9)
A84V (p.Ala84Val) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- gnomAD rs1473547695
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.11
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)