R420L (p.Arg420Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
R420L (p.Arg420Leu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy; not provided; CBL-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R420L (p.Arg420Leu) variant details
- p.Arg420Leu
- rs267606708
- ClinGen CA382913849
- cosmic curated COSV50660
- ClinVar RCV001875296
- Likely pathogenic
- RASopathy; not provided; CBL-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (RASopathy; not provided; CBL-related disorder)
- EBI: Pathogenic (in NSLL)
- UniProt: Pathogenic (in NSLL)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available