P35T (p.Pro35Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
P35T (p.Pro35Thr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- gnomAD 11-119206520-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.27
- CADD 24.70
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.03
- Literature evidence available