E54Q (p.Glu54Gln) variant of BCL2L2 (Bcl-2-like protein 2)
E54Q (p.Glu54Gln) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- TOPMed rs1186442353
- gnomAD rs1186442353
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.24
- CADD 27.20
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available