Q34R (p.Gln34Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
Q34R (p.Gln34Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense 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.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- gnomAD 11-119206518-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.37
- CADD 23.80
- PolyPhen-2 0.31
- SIFT 0.01
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.0479
- Literature evidence available