E6K (p.Glu6Lys) variant of BAX (Apoptosis regulator BAX)
E6K (p.Glu6Lys) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- 1000Genomes rs536405925
- TOPMed rs536405925
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.03
- CADD 26.70
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available