G14V (p.Gly14Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G14V (p.Gly14Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD 11-119206458-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.365
- Literature evidence available