D31E (p.Asp31Glu) variant of CBL (E3 ubiquitin-protein ligase CBL)
D31E (p.Asp31Glu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile myelomonocytic leukemia; CBL-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D31E (p.Asp31Glu) variant details
- p.Asp31Glu
- rs376679438
- ClinGen CA6318224
- ClinVar RCV000578005
- ClinVar RCV001770529
- Uncertain significance
- Juvenile myelomonocytic leukemia; CBL-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.23
- MetaLR 0.19
- MetaSVM -0.75
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (Juvenile myelomonocytic leukemia; CBL-related disorder; not spec)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.703
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)