L25Q (p.Leu25Gln) variant of CBL (E3 ubiquitin-protein ligase CBL)
L25Q (p.Leu25Gln) 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, published literature, and structural context.
L25Q (p.Leu25Gln) variant details
- p.Leu25Gln
- gnomAD 11-119206491-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.40
- AlphaMissense 0.38
- MetaLR 0.44
- MetaSVM -0.08
- CADD 24.20
- PolyPhen-2 0.96
- 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
- Literature evidence available