L25M (p.Leu25Met) variant of CBL (E3 ubiquitin-protein ligase CBL)
L25M (p.Leu25Met) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L25M (p.Leu25Met) variant details
- p.Leu25Met
- gnomAD 11-119206490-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.15
- AlphaMissense 0.16
- MetaLR 0.33
- MetaSVM -0.35
- CADD 22.90
- PolyPhen-2 0.81
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.417
- Literature evidence available