G27R (p.Gly27Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
G27R (p.Gly27Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- gnomAD 11-119206496-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.33
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.196
- Literature evidence available