A2T (p.Ala2Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
A2T (p.Ala2Thr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 11-119206421-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.39
- AlphaMissense 0.26
- MetaLR 0.32
- MetaSVM -0.35
- CADD 23.60
- PolyPhen-2 0.68
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.305
- Literature evidence available