H36H (p.His36His) variant of CBL (E3 ubiquitin-protein ligase CBL)
H36H (p.His36His) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous 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.
H36H (p.His36His) variant details
- p.His36His
- rs748961080
- gnomAD 11-119206525-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 11.10
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.739
- Literature evidence available