F33I (p.Phe33Ile) variant of CBL (E3 ubiquitin-protein ligase CBL)
F33I (p.Phe33Ile) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F33I (p.Phe33Ile) variant details
- p.Phe33Ile
- gnomAD rs1406942749
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- MetaLR 0.20
- MetaSVM -0.79
- CADD 23.30
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.478