G52E (p.Gly52Glu) variant of BCL2L11 (Bcl-2-like protein 11)
G52E (p.Gly52Glu) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- ExAC rs759304312
- TOPMed rs759304312
- gnomAD rs759304312
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.25
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available