G24D (p.Gly24Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G24D (p.Gly24Asp) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- TOPMed rs1188757026
- gnomAD rs1188757026
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.36
- MetaLR 0.18
- MetaSVM -1.00
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.672