F33Y (p.Phe33Tyr) variant of CBL (E3 ubiquitin-protein ligase CBL)
F33Y (p.Phe33Tyr) 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 not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F33Y (p.Phe33Tyr) variant details
- p.Phe33Tyr
- rs987225083
- ClinGen CA382976113
- ClinVar RCV001995130
- ClinVar RCV006270537
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.35
- AlphaMissense 0.52
- MetaLR 0.42
- MetaSVM 0.14
- CADD 24.20
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.478