E39D (p.Glu39Asp) variant of BCL2L11 (Bcl-2-like protein 11)
E39D (p.Glu39Asp) in BCL2L11 (Bcl-2-like protein 11) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- gnomAD 2-111123852-T-TAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available