P35L (p.Pro35Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
P35L (p.Pro35Leu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- gnomAD 11-119206521-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.30
- CADD 25.30
- PolyPhen-2 0.47
- SIFT 0.03
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.03
- Literature evidence available