A2D (p.Ala2Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
A2D (p.Ala2Asp) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 11-119206422-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.35
- AlphaMissense 0.85
- MetaLR 0.55
- MetaSVM 0.17
- CADD 23.20
- PolyPhen-2 0.99
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.305
- Literature evidence available