G49E (p.Gly49Glu) variant of BCL2L11 (Bcl-2-like protein 11)
G49E (p.Gly49Glu) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- cosmic curated COSV58029
- ExAC rs769237808
- gnomAD rs769237808
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.14
- CADD 14.80
- PolyPhen-2 0.93
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available