E48E (p.Glu48Glu) variant of BAK1 (Q16611)
E48E (p.Glu48Glu) in BAK1 (Q16611) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- rs769950150
- gnomAD 6-33575855-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 11.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available