E39K (p.Glu39Lys) variant of BCL2L11 (Bcl-2-like protein 11)
E39K (p.Glu39Lys) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- TOPMed rs1369969496
- gnomAD rs1369969496
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -0.98
- CADD 24.60
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available