E162K (p.Glu162Lys) variant of BACH2 (Q9BYV9)
E162K (p.Glu162Lys) in BACH2 (Q9BYV9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
E162K (p.Glu162Lys) variant details
- p.Glu162Lys
- ExAC rs774952715
- TOPMed rs774952715
- gnomAD rs774952715
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.12
- CADD 19.40
- PolyPhen-2 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)