G16V (p.Gly16Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G16V (p.Gly16Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD rs1215282257
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- MetaLR 0.21
- MetaSVM -0.81
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.196