G12R (p.Gly12Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
G12R (p.Gly12Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD rs866162034
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.93
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.637