G40E (p.Gly40Glu) variant of BCL2L1 (Bcl-2-like protein 1)
G40E (p.Gly40Glu) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- ExAC rs769141052
- TOPMed rs769141052
- gnomAD rs769141052
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available