K7del (p.Lys7del) variant of CBL (E3 ubiquitin-protein ligase CBL)
K7del (p.Lys7del) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K7del (p.Lys7del) variant details
- gnomAD 11-119206431-TGAA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 19.50
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.308
- Literature evidence available