V5L (p.Val5Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
V5L (p.Val5Leu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 11-119206430-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.10
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.361
- Literature evidence available