R420Q (p.Arg420Gln) variant of CBL (E3 ubiquitin-protein ligase CBL)
R420Q (p.Arg420Gln) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CBL-related disorder; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R420Q (p.Arg420Gln) variant details
- p.Arg420Gln
- rs267606708
- ClinGen CA123490
- NCI-TCGA Cosmic COSV5062
- cosmic curated COSV50629
- Pathogenic/Likely pathogenic
- CBL-related disorder; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBL-related disorder; not provided; RASopathy)
- EBI: Pathogenic (in NSLL)
- UniProt: Pathogenic (in NSLL)
- Most common in the REMAINING population (allele frequency 0.00047)
- Structural context available
- Cited in: Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. (PMID 20619386)
- Cited in: RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR. (PMID 25178484)