L25L (p.Leu25Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
L25L (p.Leu25Leu) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L25L (p.Leu25Leu) variant details
- p.Leu25Leu
- gnomAD 11-119206490-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 12.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.417
- Literature evidence available