L25V (p.Leu25Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
L25V (p.Leu25Val) 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, published literature, and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- gnomAD 11-119206490-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- AlphaMissense 0.10
- MetaLR 0.22
- MetaSVM -0.82
- CADD 22.60
- PolyPhen-2 0.00
- 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