L28F (p.Leu28Phe) variant of CBL (E3 ubiquitin-protein ligase CBL)
L28F (p.Leu28Phe) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs2496819373
- ClinGen CA382976009
- ClinVar RCV002620453
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.66
- CADD 22.60
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.12