E81K (p.Glu81Lys) variant of BACH2 (Q9BYV9)
E81K (p.Glu81Lys) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- ExAC rs779642556
- gnomAD rs779642556
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.39
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)