V5M (p.Val5Met) variant of CBL (E3 ubiquitin-protein ligase CBL)
V5M (p.Val5Met) 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 Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- gnomAD rs1222275357
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -0.78
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.361