E46K (p.Glu46Lys) variant of BCL2L1 (Bcl-2-like protein 1)
E46K (p.Glu46Lys) in BCL2L1 (Bcl-2-like protein 1) 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, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- gnomAD 20-31722083-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available