G3D (p.Gly3Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G3D (p.Gly3Asp) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- TOPMed rs1362763825
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.34
- MetaLR 0.18
- MetaSVM -0.86
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.2