G27E (p.Gly27Glu) variant of CBL (E3 ubiquitin-protein ligase CBL)
G27E (p.Gly27Glu) 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.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- gnomAD 11-119206497-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.34
- AlphaMissense 0.20
- MetaLR 0.28
- MetaSVM -0.75
- CADD 24.10
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.196
- Literature evidence available