G14C (p.Gly14Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
G14C (p.Gly14Cys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD 11-119206457-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.28
- AlphaMissense 0.14
- MetaLR 0.29
- MetaSVM -0.51
- CADD 22.80
- PolyPhen-2 0.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.365
- Literature evidence available