G42C (p.Gly42Cys) variant of BCL2L11 (Bcl-2-like protein 11)
G42C (p.Gly42Cys) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G42C (p.Gly42Cys) variant details
- p.Gly42Cys
- gnomAD rs1447050253
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.24
- MetaLR 0.19
- MetaSVM -0.55
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.20
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available