V67A (p.Val67Ala) variant of BACH2 (Q9BYV9)
V67A (p.Val67Ala) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
V67A (p.Val67Ala) variant details
- p.Val67Ala
- TOPMed rs1300893800
- gnomAD rs1300893800
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)