G18R (p.Gly18Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
G18R (p.Gly18Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- ExAC rs765337015
- gnomAD rs765337015
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- MetaLR 0.17
- MetaSVM -0.98
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.122