V5A (p.Val5Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
V5A (p.Val5Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 11-119206431-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.19
- AlphaMissense 0.93
- MetaLR 0.48
- MetaSVM 0.02
- CADD 23.00
- PolyPhen-2 0.98
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.361
- Literature evidence available