D4G (p.Asp4Gly) variant of BACH2 (Q9BYV9)
D4G (p.Asp4Gly) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
D4G (p.Asp4Gly) variant details
- p.Asp4Gly
- TOPMed rs1419275988
- gnomAD rs1419275988
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.31
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)