A11A (p.Ala11Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
A11A (p.Ala11Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- gnomAD 11-119206450-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.10
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.02
- Literature evidence available