K7E (p.Lys7Glu) variant of CBL (E3 ubiquitin-protein ligase CBL)
K7E (p.Lys7Glu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- gnomAD 11-119206436-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.44
- CADD 23.90
- PolyPhen-2 0.14
- SIFT 0.01
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.308
- Literature evidence available