L28L (p.Leu28Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
L28L (p.Leu28Leu) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- gnomAD 11-119206501-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 12.50
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.12
- Literature evidence available