S22L (p.Ser22Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
S22L (p.Ser22Leu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- gnomAD 11-119206482-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.12
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.97
- CADD 20.10
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.256
- Literature evidence available