L25R (p.Leu25Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
L25R (p.Leu25Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L25R (p.Leu25Arg) variant details
- p.Leu25Arg
- ExAC rs767515458
- gnomAD rs767515458
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.41
- AlphaMissense 0.44
- MetaLR 0.40
- MetaSVM -0.18
- CADD 24.20
- PolyPhen-2 0.90
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.417