A148G (p.Ala148Gly) variant of BACH2 (Q9BYV9)
A148G (p.Ala148Gly) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
A148G (p.Ala148Gly) variant details
- p.Ala148Gly
- TOPMed rs1265099818
- gnomAD rs1265099818
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.04
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)