E48K (p.Glu48Lys) variant of BAK1 (Q16611)
E48K (p.Glu48Lys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- ExAC rs775583296
- TOPMed rs775583296
- gnomAD rs775583296
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.17
- CADD 25.30
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available