Q34Q (p.Gln34Gln) variant of CBL (E3 ubiquitin-protein ligase CBL)
Q34Q (p.Gln34Gln) 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.
Q34Q (p.Gln34Gln) variant details
- p.Gln34Gln
- rs1315924709
- gnomAD 11-119206519-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 12.40
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.0479
- Literature evidence available