A32S (p.Ala32Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
A32S (p.Ala32Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- gnomAD 11-119206511-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.02
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.6
- Literature evidence available