A2S (p.Ala2Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
A2S (p.Ala2Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 11-119206421-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.32
- AlphaMissense 0.18
- MetaLR 0.40
- MetaSVM -0.21
- CADD 23.30
- PolyPhen-2 0.98
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.305
- Literature evidence available