F33L (p.Phe33Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
F33L (p.Phe33Leu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- gnomAD rs1406942749
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.31
- MetaLR 0.18
- MetaSVM -0.82
- CADD 24.70
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.478