G13C (p.Gly13Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
G13C (p.Gly13Cys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 11-119206454-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.447
- Literature evidence available