R29G (p.Arg29Gly) variant of BCL2L11 (Bcl-2-like protein 11)
R29G (p.Arg29Gly) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- rs2468256670
- ClinGen CA348351551
- ClinVar RCV004104411
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.32
- MetaLR 0.18
- MetaSVM -0.79
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available