G50S (p.Gly50Ser) variant of BCL2L11 (Bcl-2-like protein 11)
G50S (p.Gly50Ser) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- ExAC rs772949984
- gnomAD rs772949984
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.11
- CADD 15.80
- PolyPhen-2 0.85
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available