G16S (p.Gly16Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G16S (p.Gly16Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- gnomAD 11-119206463-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.13
- AlphaMissense 0.58
- MetaLR 0.37
- MetaSVM -0.21
- CADD 20.30
- PolyPhen-2 0.89
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.196
- Literature evidence available