V5E (p.Val5Glu) variant of CBL (E3 ubiquitin-protein ligase CBL)
V5E (p.Val5Glu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- gnomAD 11-119206431-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.22
- AlphaMissense 0.87
- MetaLR 0.54
- MetaSVM 0.15
- CADD 23.20
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.361
- Literature evidence available