P35R (p.Pro35Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
P35R (p.Pro35Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- gnomAD 11-119206520-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 26.90
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.03
- Literature evidence available