S20P (p.Ser20Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
S20P (p.Ser20Pro) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- gnomAD 11-119206475-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- AlphaMissense 0.38
- MetaLR 0.34
- MetaSVM -0.38
- CADD 22.40
- PolyPhen-2 0.45
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.898
- Literature evidence available