D4V (p.Asp4Val) variant of BACH2 (Q9BYV9)
D4V (p.Asp4Val) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
D4V (p.Asp4Val) variant details
- p.Asp4Val
- TOPMed rs1419275988
- gnomAD rs1419275988
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.36
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)