T70A (p.Thr70Ala) variant of BACH2 (Q9BYV9)
T70A (p.Thr70Ala) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
T70A (p.Thr70Ala) variant details
- p.Thr70Ala
- gnomAD rs1371210319
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.06
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)