E163K (p.Glu163Lys) variant of BACH2 (Q9BYV9)
E163K (p.Glu163Lys) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
E163K (p.Glu163Lys) variant details
- p.Glu163Lys
- gnomAD rs1351596447
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.79
- SIFT 0.66
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)