R420P (p.Arg420Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
R420P (p.Arg420Pro) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R420P (p.Arg420Pro) variant details
- p.Arg420Pro
- rs267606708
- ClinGen CA382913844
- cosmic curated COSV50657
- ClinVar RCV002929074
- Conflicting interpretations
- not provided; not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; RASopathy)
- EBI: Pathogenic (in NSLL)
- UniProt: Pathogenic (in NSLL)
- Population evidence available
- Structural context available