A147T (p.Ala147Thr) variant of BACH2 (Q9BYV9)
A147T (p.Ala147Thr) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
A147T (p.Ala147Thr) variant details
- p.Ala147Thr
- ExAC rs769519112
- gnomAD rs769519112
- Missense
- Variant Prioritization Score for Impact Estimate 0.0726
- REVEL 0.06
- CADD 1.16
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)