L28H (p.Leu28His) variant of CBL (E3 ubiquitin-protein ligase CBL)
L28H (p.Leu28His) 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.
L28H (p.Leu28His) variant details
- p.Leu28His
- gnomAD 11-119206500-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.34
- AlphaMissense 0.26
- MetaLR 0.26
- MetaSVM -0.77
- CADD 27.10
- PolyPhen-2 0.17
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.12
- Literature evidence available