E52* (p.Glu52Ter) variant of MYD88 (Q99836)
E52* (p.Glu52Ter) in MYD88 (Q99836) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- gnomAD 3-38138854-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 37.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available