G3R (p.Gly3Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
G3R (p.Gly3Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- gnomAD rs1949268770
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.22
- MetaLR 0.17
- MetaSVM -0.97
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.2