R420G (p.Arg420Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
R420G (p.Arg420Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R420G (p.Arg420Gly) variant details
- p.Arg420Gly
- rs200341293
- ClinGen CA382913835
- NCI-TCGA Cosmic COSV5063
- cosmic curated COSV50630
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.95
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance (in NSLL)
- UniProt: Uncertain significance (in NSLL)
- Population evidence available
- Structural context available