F33S (p.Phe33Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
F33S (p.Phe33Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F33S (p.Phe33Ser) variant details
- p.Phe33Ser
- Ensembl rs987225083
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.43
- AlphaMissense 0.45
- MetaLR 0.39
- MetaSVM -0.18
- CADD 24.90
- PolyPhen-2 0.83
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.478