D390Y (p.Asp390Tyr) variant of CBL (E3 ubiquitin-protein ligase CBL)
D390Y (p.Asp390Tyr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CBL-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
D390Y (p.Asp390Tyr) variant details
- p.Asp390Tyr
- rs267606707
- ClinGen CA123488
- ClinVar RCV004576900
- UniProt VAR 064334
- Pathogenic
- CBL-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.94
- MetaLR 0.83
- MetaSVM 0.75
- PolyPhen-2 0.91
- SIFT 0.10
- EVE 0.76
- ClinVar: Pathogenic (CBL-related disorder)
- EBI: Pathogenic (in NSLL)
- UniProt: Pathogenic (in NSLL)
- 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)