Y371S (p.Tyr371Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
Y371S (p.Tyr371Ser) 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 RASopathy; Juvenile myelomonocytic leukemia; CBL-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y371S (p.Tyr371Ser) variant details
- p.Tyr371Ser
- rs387906666
- ClinGen CA382912305
- NCI-TCGA Cosmic COSV5063
- Pathogenic/Likely pathogenic
- RASopathy; Juvenile myelomonocytic leukemia; CBL-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; Juvenile myelomonocytic leukemia; CBL-related disorde)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)