G3C (p.Gly3Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
G3C (p.Gly3Cys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G3C (p.Gly3Cys) variant details
- p.Gly3Cys
- gnomAD 11-119206424-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.35
- CADD 25.80
- PolyPhen-2 0.51
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.2
- Literature evidence available