E46R (p.Glu46Arg) variant of BCL2L1 (Bcl-2-like protein 1)
E46R (p.Glu46Arg) in BCL2L1 (Bcl-2-like protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E46R (p.Glu46Arg) variant details
- p.Glu46Arg
- gnomAD 20-31722082-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 29.50
- Population evidence available
- Structural context available
- Literature evidence available