Y371H (p.Tyr371His) variant of CBL (E3 ubiquitin-protein ligase CBL)
Y371H (p.Tyr371His) 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; Cardiovascular phenotype; Juvenile myelomonocytic leukemia. 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.
Y371H (p.Tyr371His) variant details
- p.Tyr371His
- rs267606706
- ClinGen CA123492
- cosmic curated COSV50629
- ClinVar RCV000014822
- Pathogenic/Likely pathogenic
- CBL-related disorder; Cardiovascular phenotype; Juvenile myelomonocytic leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.97
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBL-related disorder; Cardiovascular phenotype; Juvenile myelomo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. (PMID 19571318)
- Cited in: Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic… (PMID 20543203)